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NM_005689.4(ABCB6):c.2000G>C (p.Gly667Ala) AND Microphthalmia, isolated, with coloboma 7

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001171505.1

Allele description [Variation Report for NM_005689.4(ABCB6):c.2000G>C (p.Gly667Ala)]

NM_005689.4(ABCB6):c.2000G>C (p.Gly667Ala)

Gene:
ABCB6:ATP binding cassette subfamily B member 6 (LAN blood group) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_005689.4(ABCB6):c.2000G>C (p.Gly667Ala)
HGVS:
  • NC_000002.12:g.219211077C>G
  • NG_032110.1:g.12914G>C
  • NM_001349828.2:c.1862G>C
  • NM_005689.4:c.2000G>CMANE SELECT
  • NP_001336757.1:p.Gly621Ala
  • NP_005680.1:p.Gly667Ala
  • LRG_824t1:c.2000G>C
  • LRG_824:g.12914G>C
  • LRG_824p1:p.Gly667Ala
  • NC_000002.11:g.220075799C>G
Protein change:
G621A
Links:
dbSNP: rs1377097612
NCBI 1000 Genomes Browser:
rs1377097612
Molecular consequence:
  • NM_001349828.2:c.1862G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005689.4:c.2000G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Microphthalmia, isolated, with coloboma 7 (MCOPCB7)
Synonyms:
ocular coloboma; MICROPHTHALMIA/COLOBOMA 7
Identifiers:
MONDO: MONDO:0013783; MedGen: C3281027; Orphanet: 98938; OMIM: 614497

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001334230Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,
no assertion criteria provided
Uncertain significanceinheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,, SCV001334230.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2024