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NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) AND Rare genetic deafness

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 16, 2010
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:
RCV000036203.5

Allele description [Variation Report for NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)]

NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)

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.5804T>C (p.Leu1935Pro)
HGVS:
  • NC_000011.10:g.77207350T>C
  • NG_009086.2:g.84105T>C
  • NM_000260.4:c.5804T>CMANE SELECT
  • NM_001127180.2:c.5690T>C
  • NM_001369365.1:c.5657T>C
  • NP_000251.3:p.Leu1935Pro
  • NP_001120652.1:p.Leu1897Pro
  • NP_001356294.1:p.Leu1886Pro
  • LRG_1420t1:c.5804T>C
  • LRG_1420:g.84105T>C
  • LRG_1420p1:p.Leu1935Pro
  • NC_000011.9:g.76918395T>C
  • NG_009086.1:g.84086T>C
  • NM_000260.3:c.5804T>C
  • NM_000260.4(MYO7A):c.5804T>CMANE SELECT
  • c.5804T>C
Protein change:
L1886P
Links:
dbSNP: rs397516323
NCBI 1000 Genomes Browser:
rs397516323
Molecular consequence:
  • NM_000260.4:c.5804T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.5690T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.5657T>C - 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
SCV000059855Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
no assertion criteria provided
Likely pathogenic
(Aug 16, 2010) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not providednot providednot providedclinical testing

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000059855.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

The Leu1935Pro variant in MYO7A has not been reported in the literature. This re sidue is conserved across species and computational analyses (PolyPhen, SIFT) su ggest that the Leu1935Pro variant may impact the protein. This variant was detec ted in a patient in combination with a reported pathogenic variant increasing th e likelihood that the Leu1935Pro variant is pathogenic. In summary, this variant is likely to be pathogenic.

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

Last Updated: Oct 13, 2024