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NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 24, 2017
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:
RCV000670176.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)]

NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)

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.1849T>C (p.Ser617Pro)
Other names:
NM_000260.4(MYO7A):c.1849T>C
HGVS:
  • NC_000011.10:g.77172799T>C
  • NG_009086.2:g.49554T>C
  • NM_000260.4:c.1849T>CMANE SELECT
  • NM_001127180.2:c.1849T>C
  • NM_001369365.1:c.1816T>C
  • NP_000251.3:p.Ser617Pro
  • NP_001120652.1:p.Ser617Pro
  • NP_001356294.1:p.Ser606Pro
  • LRG_1420t1:c.1849T>C
  • LRG_1420:g.49554T>C
  • LRG_1420p1:p.Ser617Pro
  • NC_000011.9:g.76883845T>C
  • NC_000011.9:g.76883845T>C
  • NG_009086.1:g.49536T>C
  • NM_000260.3(MYO7A):c.1849T>C
  • NM_000260.3:c.1849T>C
  • NM_001127180.1:c.1849T>C
  • p.Ser617Pro
Protein change:
S606P
Links:
dbSNP: rs782063761
NCBI 1000 Genomes Browser:
rs782063761
Molecular consequence:
  • NM_000260.4:c.1849T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.1849T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.1816T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 2
Synonyms:
NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2; Deafness, autosomal recessive 2
Identifiers:
MONDO: MONDO:0010807; MedGen: C1838701; Orphanet: 90636; OMIM: 600060
Name:
Usher syndrome type 1 (USH1)
Synonyms:
Usher syndrome, type I, French variety; Retinitis pigmentosa and congenital deafness
Identifiers:
MONDO: MONDO:0010168; MedGen: C1568247; Orphanet: 231169; Orphanet: 886; OMIM: 276900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000795003Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Uncertain significance
(Oct 24, 2017)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]
PMID:
28041643
PMCID:
PMC5223092

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Yan D, Tekin D, Bademci G, Foster J 2nd, Cengiz FB, Kannan-Sundhari A, Guo S, Mittal R, Zou B, Grati M, Kabahuma RI, Kameswaran M, Lasisi TJ, Adedeji WA, Lasisi AO, Menendez I, Herrera M, Carranza C, Maroofian R, Crosby AH, Bensaid M, Masmoudi S, et al.

Hum Genet. 2016 Aug;135(8):953-61. doi: 10.1007/s00439-016-1697-z. Epub 2016 Jun 25.

PubMed [citation]
PMID:
27344577
PMCID:
PMC5497215

Details of each submission

From Counsyl, SCV000795003.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024