NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) AND not provided

Clinical significance:Benign (Last evaluated: Dec 5, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000992408.2

Allele description [Variation Report for NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=)]

NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=)

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.6519C>T (p.Asn2173=)
Other names:
p.N2173N:AAC>AAT
HGVS:
  • NC_000011.10:g.77213940C>T
  • NG_009086.1:g.90676C>T
  • NG_009086.2:g.90695C>T
  • NM_000260.4:c.6519C>TMANE SELECT
  • NM_001127180.2:c.6399C>T
  • NM_001369365.1:c.6372C>T
  • NP_000251.3:p.Asn2173=
  • NP_001120652.1:p.Asn2133=
  • NP_001356294.1:p.Asn2124=
  • LRG_1420t1:c.6519C>T
  • LRG_1420:g.90695C>T
  • LRG_1420p1:p.Asn2173=
  • NC_000011.9:g.76924985C>T
  • NM_000260.3:c.6519C>T
  • c.6519C>T
  • p.Asn2173Asn
Links:
dbSNP: rs111033230
NCBI 1000 Genomes Browser:
rs111033230
Molecular consequence:
  • NM_000260.4:c.6519C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127180.2:c.6399C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369365.1:c.6372C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001144674Athena Diagnostics Inccriteria provided, single submitter
Benign
(Dec 28, 2018)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV001719667Invitaecriteria provided, single submitter
Benign
(Dec 5, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.

Adato A, Weil D, Kalinski H, Pel-Or Y, Ayadi H, Petit C, Korostishevsky M, Bonne-Tamir B.

Am J Hum Genet. 1997 Oct;61(4):813-21.

PubMed [citation]
PMID:
9382091
PMCID:
PMC1716000

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.

Jaijo T, Aller E, Oltra S, Beneyto M, Nájera C, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Perez-Garrigues H, Navea A, Millán JM.

Hum Mutat. 2006 Mar;27(3):290-1.

PubMed [citation]
PMID:
16470552
See all PubMed Citations (5)

Details of each submission

From Athena Diagnostics Inc, SCV001144674.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV001719667.1

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

Last Updated: Nov 27, 2021

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