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NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) AND Rare genetic deafness

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 16, 2013
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:
RCV000155024.4

Allele description [Variation Report for NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu)]

NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu)

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu)
HGVS:
  • NC_000011.10:g.77190773C>T
  • NG_009086.2:g.67528C>T
  • NM_000260.4:c.3827C>TMANE SELECT
  • NM_001127180.2:c.3827C>T
  • NM_001369365.1:c.3794C>T
  • NP_000251.3:p.Ser1276Leu
  • NP_001120652.1:p.Ser1276Leu
  • NP_001356294.1:p.Ser1265Leu
  • LRG_1420t1:c.3827C>T
  • LRG_1420:g.67528C>T
  • LRG_1420p1:p.Ser1276Leu
  • NC_000011.9:g.76901818C>T
  • NG_009086.1:g.67509C>T
  • NM_000260.3:c.3827C>T
  • NM_000260.4(MYO7A):c.3827C>TMANE SELECT
Protein change:
S1265L
Links:
dbSNP: rs369458838
NCBI 1000 Genomes Browser:
rs369458838
Molecular consequence:
  • NM_000260.4:c.3827C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.3827C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.3794C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: C5680250; Orphanet: 96210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000204707Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely pathogenic
(Mar 16, 2013) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not providednot providednot providedclinical testing

Citations

PubMed

Nothing to display

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000204707.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

The Ser1276Leu variant in MYO7A has not been reported in the literature nor iden tified by our laboratory in any other families. However, identification of this variant in trans with another MYO7A in this individual?s daughter who has clinic al features of Usher syndrome increases the likelihood that this variant is path ogenic. In addition, computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Ser1276Leu varian t may impact the protein. It should be noted that this variant has been identifi ed in 1/3582 (0.02%) African American chromosomes from a broad population (NHLBI Exome Sequencing Project; http://evs.gs.washington.edu/EVS), however, its frequ ency is low enough to be consistent with a recessive carrier frequency. In summa ry, this variant is likely to be pathogenic, though additional studies are requi red to fully establish its clinical significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

Last Updated: Sep 29, 2024