NM_002465.4(MYBPC1):c.1253T>G (p.Val418Gly) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 6, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000486652.4

Allele description [Variation Report for NM_002465.4(MYBPC1):c.1253T>G (p.Val418Gly)]

NM_002465.4(MYBPC1):c.1253T>G (p.Val418Gly)

Genes:

MYBPC1:myosin binding protein C1 [Gene - OMIM - HGNC]
LOC105369937:uncharacterized LOC105369937 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.2

Genomic location:

Preferred name:

NM_002465.4(MYBPC1):c.1253T>G (p.Val418Gly)

HGVS:

NC_000012.12:g.101649316T>G
NG_031912.1:g.59386T>G
NM_001254718.3:c.1178T>G
NM_001254719.3:c.1178T>G
NM_001254720.3:c.1142T>G
NM_001254721.3:c.1121T>G
NM_001254722.3:c.1100T>G
NM_001254723.3:c.1139T>G
NM_001404675.1:c.1253T>G
NM_001404676.1:c.1121T>G
NM_001404677.1:c.1043T>G
NM_001404678.1:c.1121T>G
NM_001404679.1:c.1043T>G
NM_001404680.1:c.1100T>G
NM_001404681.1:c.1043T>G
NM_002465.4:c.1253T>GMANE SELECT
NM_206819.4:c.1253T>G
NM_206820.4:c.1178T>G
NM_206821.4:c.1178T>G
NP_001241647.1:p.Val393Gly
NP_001241647.1:p.Val393Gly
NP_001241648.1:p.Val393Gly
NP_001241648.1:p.Val393Gly
NP_001241649.1:p.Val381Gly
NP_001241649.1:p.Val381Gly
NP_001241650.1:p.Val374Gly
NP_001241650.1:p.Val374Gly
NP_001241651.1:p.Val367Gly
NP_001241651.1:p.Val367Gly
NP_001241652.1:p.Val380Gly
NP_001241652.1:p.Val380Gly
NP_001391604.1:p.Val418Gly
NP_001391605.1:p.Val374Gly
NP_001391606.1:p.Val348Gly
NP_001391607.1:p.Val374Gly
NP_001391608.1:p.Val348Gly
NP_001391609.1:p.Val367Gly
NP_001391610.1:p.Val348Gly
NP_002456.2:p.Val418Gly
NP_996555.1:p.Val418Gly
NP_996555.1:p.Val418Gly
NP_996556.1:p.Val393Gly
NP_996556.1:p.Val393Gly
NP_996557.1:p.Val393Gly
NP_996557.1:p.Val393Gly
NC_000012.11:g.102043094T>G
NM_001254718.2:c.1178T>G
NM_001254719.2:c.1178T>G
NM_001254720.2:c.1142T>G
NM_001254721.2:c.1121T>G
NM_001254722.2:c.1100T>G
NM_001254723.2:c.1139T>G
NM_002465.3:c.1253T>G
NM_206819.3:c.1253T>G
NM_206820.3:c.1178T>G
NM_206821.3:c.1178T>G

Protein change:

V348G

Links:

dbSNP: rs1064795032

NCBI 1000 Genomes Browser:

rs1064795032

Molecular consequence:

NM_001254718.3:c.1178T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001254719.3:c.1178T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001254720.3:c.1142T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001254721.3:c.1121T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001254722.3:c.1100T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001254723.3:c.1139T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001404675.1:c.1253T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001404676.1:c.1121T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001404677.1:c.1043T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001404678.1:c.1121T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001404679.1:c.1043T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001404680.1:c.1100T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001404681.1:c.1043T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002465.4:c.1253T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_206819.4:c.1253T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_206820.4:c.1178T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_206821.4:c.1178T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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hypothetical protein NBRC113063_00087 [Apilactobacillus micheneri]
hypothetical protein NBRC113063_00087 [Apilactobacillus micheneri]
gi|1381762683|dbj|GAY79253.1||gnl|W XE|GAY79253

Protein
RecName: Full=Sulfotransferase 6B1; Short=ST6B1; AltName: Full=Thyroxine sulfotr...
RecName: Full=Sulfotransferase 6B1; Short=ST6B1; AltName: Full=Thyroxine sulfotransferase
gi|269849654|sp|Q6IMI4.2|ST6B1_HUMA

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000570430	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Jun 6, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000570430

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Jun 6, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000570430.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The V418G variant in the MYBPC1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The V418G variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. As an alternate mechanism, some splice predictor models indicate that this sequence change may create a new cryptic splice donor site for intron 15, which may cause abnormal gene splicing; however, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. The V418G variant is a strong candidate for a pathogenic variant

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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