NM_001385682.1(MAP4):c.6755C>T (p.Pro2252Leu) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 6, 2023
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV004263788.1
Allele description [Variation Report for NM_001385682.1(MAP4):c.6755C>T (p.Pro2252Leu)]
NM_001385682.1(MAP4):c.6755C>T (p.Pro2252Leu)
- Gene:
- MAP4:microtubule associated protein 4 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 3p21.31
- Genomic location:
- Preferred name:
- NM_001385682.1(MAP4):c.6755C>T (p.Pro2252Leu)
- HGVS:
- NC_000003.12:g.47853294G>A
- NG_052840.1:g.240986C>T
- NM_001134364.2:c.3262-356C>T
- NM_001384675.1:c.2990C>T
- NM_001384676.1:c.3275C>T
- NM_001384677.1:c.3068C>T
- NM_001384678.1:c.3149C>T
- NM_001384679.1:c.3326C>T
- NM_001384680.1:c.3014C>T
- NM_001384681.1:c.3139-356C>T
- NM_001384707.1:c.3122C>T
- NM_001384729.1:c.3320C>T
- NM_001384730.1:c.3251C>T
- NM_001384731.1:c.3326C>T
- NM_001384733.1:c.3038C>T
- NM_001384734.1:c.3206C>T
- NM_001384735.1:c.3113C>T
- NM_001384736.1:c.3371C>T
- NM_001384737.1:c.3245C>T
- NM_001384738.1:c.3356C>T
- NM_001384744.1:c.3248C>T
- NM_001384745.1:c.3407C>T
- NM_001384746.1:c.3083C>T
- NM_001384748.1:c.3356C>T
- NM_001384751.1:c.3107C>T
- NM_001384752.1:c.2897C>T
- NM_001384753.1:c.3008C>T
- NM_001384754.1:c.3227C>T
- NM_001384755.1:c.2990C>T
- NM_001384756.1:c.3217-356C>T
- NM_001384757.1:c.2921C>T
- NM_001384758.1:c.2954C>T
- NM_001384759.1:c.2870C>T
- NM_001384760.1:c.2774C>T
- NM_001384761.1:c.3038C>T
- NM_001384762.1:c.1889C>T
- NM_001384774.1:c.3275C>T
- NM_001384776.1:c.3149C>T
- NM_001384777.1:c.3158C>T
- NM_001384778.1:c.2687C>T
- NM_001384779.1:c.3104C>T
- NM_001384780.1:c.3035C>T
- NM_001384781.1:c.3227C>T
- NM_001384782.1:c.3206C>T
- NM_001384783.1:c.3044C>T
- NM_001384784.1:c.1628C>T
- NM_001384785.1:c.2852C>T
- NM_001384786.1:c.3137C>T
- NM_001384787.1:c.2828C>T
- NM_001384788.1:c.3371C>T
- NM_001384789.1:c.2780C>T
- NM_001384790.1:c.3164C>T
- NM_001384791.1:c.3248C>T
- NM_001384792.1:c.3164C>T
- NM_001384793.1:c.2921C>T
- NM_001384794.1:c.3041C>T
- NM_001384795.1:c.3407C>T
- NM_001384796.1:c.3257C>T
- NM_001384797.1:c.3203C>T
- NM_001384798.1:c.3320C>T
- NM_001384800.1:c.3068C>T
- NM_001384802.1:c.1850C>T
- NM_001384803.1:c.2876C>T
- NM_001384804.1:c.3080C>T
- NM_001384805.1:c.2774C>T
- NM_001384806.1:c.3083C>T
- NM_001384807.1:c.2876C>T
- NM_001384808.1:c.1850C>T
- NM_001384809.1:c.2897C>T
- NM_001384810.1:c.3113C>T
- NM_001384811.1:c.2828C>T
- NM_001384812.1:c.1598C>T
- NM_001384813.1:c.2018C>T
- NM_001384814.1:c.3206C>T
- NM_001384815.1:c.1643C>T
- NM_001384816.1:c.3251C>T
- NM_001384817.1:c.1736C>T
- NM_001384819.1:c.3062C>T
- NM_001384820.1:c.3245C>T
- NM_001384824.1:c.3131C>T
- NM_001384825.1:c.2999C>T
- NM_001384826.1:c.2867C>T
- NM_001384827.1:c.3041C>T
- NM_001384828.1:c.3137C>T
- NM_001384831.1:c.3059C>T
- NM_001384832.1:c.3206C>T
- NM_001384834.1:c.3230C>T
- NM_001384835.1:c.1427C>T
- NM_001384836.1:c.3197C>T
- NM_001384837.1:c.3152C>T
- NM_001384838.1:c.3293C>T
- NM_001384839.1:c.2999C>T
- NM_001384840.1:c.2990C>T
- NM_001384841.1:c.2954C>T
- NM_001384842.1:c.2867C>T
- NM_001384843.1:c.3083C>T
- NM_001384844.1:c.2897C>T
- NM_001384845.1:c.2954C>T
- NM_001384846.1:c.3161C>T
- NM_001384847.1:c.3104C>T
- NM_001384848.1:c.3113C>T
- NM_001384849.1:c.3281C>T
- NM_001384850.1:c.3122C>T
- NM_001384851.1:c.2990C>T
- NM_001384853.1:c.3038C>T
- NM_001384856.1:c.2480C>T
- NM_001384857.1:c.2999C>T
- NM_001384859.1:c.2990C>T
- NM_001384861.1:c.2852C>T
- NM_001384862.1:c.2594C>T
- NM_001384863.1:c.3197C>T
- NM_001384864.1:c.3128C>T
- NM_001384866.1:c.2981C>T
- NM_001384867.1:c.2999C>T
- NM_001384868.1:c.3197C>T
- NM_001384869.1:c.3044C>T
- NM_001384870.1:c.2990C>T
- NM_001384871.1:c.3248C>T
- NM_001384872.1:c.3104C>T
- NM_001384873.1:c.3242C>T
- NM_001384874.1:c.3116C>T
- NM_001384875.1:c.3311C>T
- NM_001384876.1:c.3206C>T
- NM_001384877.1:c.1973C>T
- NM_001384878.1:c.2990C>T
- NM_001384879.1:c.3269C>T
- NM_001384892.1:c.3230C>T
- NM_001384893.1:c.2945C>T
- NM_001385664.1:c.6521C>T
- NM_001385665.1:c.3320C>T
- NM_001385675.1:c.3242C>T
- NM_001385676.1:c.2912C>T
- NM_001385677.1:c.3206C>T
- NM_001385681.1:c.3257C>T
- NM_001385682.1:c.6755C>TMANE SELECT
- NM_001385684.1:c.3161C>T
- NM_001385685.1:c.3104C>T
- NM_001385686.1:c.3371C>T
- NM_001385687.1:c.6755C>T
- NM_001385688.1:c.6524C>T
- NM_001385689.1:c.6641C>T
- NM_002375.5:c.3320C>T
- NM_030885.1:c.3113C>T
- NM_030983.1:c.2990C>T
- NP_001371604.1:p.Pro997Leu
- NP_001371605.1:p.Pro1092Leu
- NP_001371606.1:p.Pro1023Leu
- NP_001371607.1:p.Pro1050Leu
- NP_001371608.1:p.Pro1109Leu
- NP_001371609.1:p.Pro1005Leu
- NP_001371636.1:p.Pro1041Leu
- NP_001371658.1:p.Pro1107Leu
- NP_001371659.1:p.Pro1084Leu
- NP_001371660.1:p.Pro1109Leu
- NP_001371662.1:p.Pro1013Leu
- NP_001371663.1:p.Pro1069Leu
- NP_001371664.1:p.Pro1038Leu
- NP_001371665.1:p.Pro1124Leu
- NP_001371666.1:p.Pro1082Leu
- NP_001371667.1:p.Pro1119Leu
- NP_001371673.1:p.Pro1083Leu
- NP_001371674.1:p.Pro1136Leu
- NP_001371675.1:p.Pro1028Leu
- NP_001371677.1:p.Pro1119Leu
- NP_001371680.1:p.Pro1036Leu
- NP_001371681.1:p.Pro966Leu
- NP_001371682.1:p.Pro1003Leu
- NP_001371683.1:p.Pro1076Leu
- NP_001371684.1:p.Pro997Leu
- NP_001371686.1:p.Pro974Leu
- NP_001371687.1:p.Pro985Leu
- NP_001371688.1:p.Pro957Leu
- NP_001371689.1:p.Pro925Leu
- NP_001371690.1:p.Pro1013Leu
- NP_001371691.1:p.Pro630Leu
- NP_001371703.1:p.Pro1092Leu
- NP_001371705.1:p.Pro1050Leu
- NP_001371706.1:p.Pro1053Leu
- NP_001371707.1:p.Pro896Leu
- NP_001371708.1:p.Pro1035Leu
- NP_001371709.1:p.Pro1012Leu
- NP_001371710.1:p.Pro1076Leu
- NP_001371711.1:p.Pro1069Leu
- NP_001371712.1:p.Pro1015Leu
- NP_001371713.1:p.Pro543Leu
- NP_001371714.1:p.Pro951Leu
- NP_001371715.1:p.Pro1046Leu
- NP_001371716.1:p.Pro943Leu
- NP_001371717.1:p.Pro1124Leu
- NP_001371718.1:p.Pro927Leu
- NP_001371719.1:p.Pro1055Leu
- NP_001371720.1:p.Pro1083Leu
- NP_001371721.1:p.Pro1055Leu
- NP_001371722.1:p.Pro974Leu
- NP_001371723.1:p.Pro1014Leu
- NP_001371724.1:p.Pro1136Leu
- NP_001371725.1:p.Pro1086Leu
- NP_001371726.1:p.Pro1068Leu
- NP_001371727.1:p.Pro1107Leu
- NP_001371729.1:p.Pro1023Leu
- NP_001371731.1:p.Pro617Leu
- NP_001371732.1:p.Pro959Leu
- NP_001371733.1:p.Pro1027Leu
- NP_001371734.1:p.Pro925Leu
- NP_001371735.1:p.Pro1028Leu
- NP_001371736.1:p.Pro959Leu
- NP_001371737.1:p.Pro617Leu
- NP_001371738.1:p.Pro966Leu
- NP_001371739.1:p.Pro1038Leu
- NP_001371740.1:p.Pro943Leu
- NP_001371741.1:p.Pro533Leu
- NP_001371742.1:p.Pro673Leu
- NP_001371743.1:p.Pro1069Leu
- NP_001371744.1:p.Pro548Leu
- NP_001371745.1:p.Pro1084Leu
- NP_001371746.1:p.Pro579Leu
- NP_001371748.1:p.Pro1021Leu
- NP_001371749.1:p.Pro1082Leu
- NP_001371753.1:p.Pro1044Leu
- NP_001371754.1:p.Pro1000Leu
- NP_001371755.1:p.Pro956Leu
- NP_001371756.1:p.Pro1014Leu
- NP_001371757.1:p.Pro1046Leu
- NP_001371760.1:p.Pro1020Leu
- NP_001371761.1:p.Pro1069Leu
- NP_001371763.1:p.Pro1077Leu
- NP_001371764.1:p.Pro476Leu
- NP_001371765.1:p.Pro1066Leu
- NP_001371766.1:p.Pro1051Leu
- NP_001371767.1:p.Pro1098Leu
- NP_001371768.1:p.Pro1000Leu
- NP_001371769.1:p.Pro997Leu
- NP_001371770.1:p.Pro985Leu
- NP_001371771.1:p.Pro956Leu
- NP_001371772.1:p.Pro1028Leu
- NP_001371773.1:p.Pro966Leu
- NP_001371774.1:p.Pro985Leu
- NP_001371775.1:p.Pro1054Leu
- NP_001371776.1:p.Pro1035Leu
- NP_001371777.1:p.Pro1038Leu
- NP_001371778.1:p.Pro1094Leu
- NP_001371779.1:p.Pro1041Leu
- NP_001371780.1:p.Pro997Leu
- NP_001371782.1:p.Pro1013Leu
- NP_001371785.1:p.Pro827Leu
- NP_001371786.1:p.Pro1000Leu
- NP_001371788.1:p.Pro997Leu
- NP_001371790.1:p.Pro951Leu
- NP_001371791.1:p.Pro865Leu
- NP_001371792.1:p.Pro1066Leu
- NP_001371793.1:p.Pro1043Leu
- NP_001371795.1:p.Pro994Leu
- NP_001371796.1:p.Pro1000Leu
- NP_001371797.1:p.Pro1066Leu
- NP_001371798.1:p.Pro1015Leu
- NP_001371799.1:p.Pro997Leu
- NP_001371800.1:p.Pro1083Leu
- NP_001371801.1:p.Pro1035Leu
- NP_001371802.1:p.Pro1081Leu
- NP_001371803.1:p.Pro1039Leu
- NP_001371804.1:p.Pro1104Leu
- NP_001371805.1:p.Pro1069Leu
- NP_001371806.1:p.Pro658Leu
- NP_001371807.1:p.Pro997Leu
- NP_001371808.1:p.Pro1090Leu
- NP_001371821.1:p.Pro1077Leu
- NP_001371822.1:p.Pro982Leu
- NP_001372593.1:p.Pro2174Leu
- NP_001372594.1:p.Pro1107Leu
- NP_001372604.1:p.Pro1081Leu
- NP_001372605.1:p.Pro971Leu
- NP_001372606.1:p.Pro1069Leu
- NP_001372610.1:p.Pro1086Leu
- NP_001372611.1:p.Pro2252Leu
- NP_001372613.1:p.Pro1054Leu
- NP_001372614.1:p.Pro1035Leu
- NP_001372615.1:p.Pro1124Leu
- NP_001372616.1:p.Pro2252Leu
- NP_001372617.1:p.Pro2175Leu
- NP_001372618.1:p.Pro2214Leu
- NP_002366.2:p.Pro1107Leu
- NP_112147.1:p.Pro1038Leu
- NP_112245.1:p.Pro997Leu
- NC_000003.11:g.47894784G>A
- NM_002375.4:c.3320C>T
This HGVS expression did not pass validation- Protein change:
- P1000L
- Molecular consequence:
- NM_001134364.2:c.3262-356C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001384681.1:c.3139-356C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001384756.1:c.3217-356C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001384675.1:c.2990C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384676.1:c.3275C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384677.1:c.3068C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384678.1:c.3149C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384679.1:c.3326C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384680.1:c.3014C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384707.1:c.3122C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384729.1:c.3320C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384730.1:c.3251C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384731.1:c.3326C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384733.1:c.3038C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384734.1:c.3206C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384735.1:c.3113C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384736.1:c.3371C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384737.1:c.3245C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384738.1:c.3356C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384744.1:c.3248C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384745.1:c.3407C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384746.1:c.3083C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384748.1:c.3356C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384751.1:c.3107C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384752.1:c.2897C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384753.1:c.3008C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384754.1:c.3227C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384755.1:c.2990C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384757.1:c.2921C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384758.1:c.2954C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384759.1:c.2870C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384760.1:c.2774C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384761.1:c.3038C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384762.1:c.1889C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384774.1:c.3275C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384776.1:c.3149C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384777.1:c.3158C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384778.1:c.2687C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384779.1:c.3104C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384780.1:c.3035C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384781.1:c.3227C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384782.1:c.3206C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384783.1:c.3044C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384784.1:c.1628C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384785.1:c.2852C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384786.1:c.3137C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384787.1:c.2828C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384788.1:c.3371C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384789.1:c.2780C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384790.1:c.3164C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384791.1:c.3248C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384792.1:c.3164C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384793.1:c.2921C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384794.1:c.3041C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384795.1:c.3407C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384796.1:c.3257C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384797.1:c.3203C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384798.1:c.3320C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384800.1:c.3068C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384802.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384803.1:c.2876C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384804.1:c.3080C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384805.1:c.2774C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384806.1:c.3083C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384807.1:c.2876C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384808.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384809.1:c.2897C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384810.1:c.3113C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384811.1:c.2828C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384812.1:c.1598C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384813.1:c.2018C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384814.1:c.3206C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384815.1:c.1643C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384816.1:c.3251C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384817.1:c.1736C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384819.1:c.3062C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384820.1:c.3245C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384824.1:c.3131C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384825.1:c.2999C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384826.1:c.2867C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384827.1:c.3041C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384828.1:c.3137C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384831.1:c.3059C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384832.1:c.3206C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384834.1:c.3230C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384835.1:c.1427C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384836.1:c.3197C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384837.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384838.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384839.1:c.2999C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384840.1:c.2990C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384841.1:c.2954C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384842.1:c.2867C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384843.1:c.3083C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384844.1:c.2897C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384845.1:c.2954C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384846.1:c.3161C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384847.1:c.3104C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384848.1:c.3113C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384849.1:c.3281C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384850.1:c.3122C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384851.1:c.2990C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384853.1:c.3038C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384856.1:c.2480C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384857.1:c.2999C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384859.1:c.2990C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384861.1:c.2852C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384862.1:c.2594C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384863.1:c.3197C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384864.1:c.3128C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384866.1:c.2981C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384867.1:c.2999C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384868.1:c.3197C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384869.1:c.3044C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384870.1:c.2990C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384871.1:c.3248C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384872.1:c.3104C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384873.1:c.3242C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384874.1:c.3116C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384875.1:c.3311C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384876.1:c.3206C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384877.1:c.1973C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384878.1:c.2990C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384879.1:c.3269C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384892.1:c.3230C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384893.1:c.2945C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385664.1:c.6521C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385665.1:c.3320C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385675.1:c.3242C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385676.1:c.2912C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385677.1:c.3206C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385681.1:c.3257C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385682.1:c.6755C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385684.1:c.3161C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385685.1:c.3104C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385686.1:c.3371C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385687.1:c.6755C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385688.1:c.6524C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385689.1:c.6641C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_002375.5:c.3320C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_030885.1:c.3113C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_030983.1:c.2990C>T - missense variant - [Sequence Ontology: SO:0001583]
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV003885602 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Likely benign (Jan 6, 2023) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Ambry Genetics, SCV003885602.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Jun 9, 2024