NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) AND Usher syndrome, type 1B

Clinical significance:Benign (Last evaluated: May 20, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001272798.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser)]

NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser)

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.4757A>G (p.Asn1586Ser)
HGVS:
  • NC_000011.10:g.77199723A>G
  • NG_009086.1:g.76459A>G
  • NG_009086.2:g.76478A>G
  • NM_000260.4:c.4757A>GMANE SELECT
  • NM_001127180.2:c.4643A>G
  • NM_001369365.1:c.4610A>G
  • NP_000251.3:p.Asn1586Ser
  • NP_001120652.1:p.Asn1548Ser
  • NP_001356294.1:p.Asn1537Ser
  • LRG_1420t1:c.4757A>G
  • LRG_1420:g.76478A>G
  • LRG_1420p1:p.Asn1586Ser
  • NC_000011.9:g.76910768A>G
  • NM_000260.3:c.4757A>G
Protein change:
N1537S
Links:
dbSNP: rs201251963
NCBI 1000 Genomes Browser:
rs201251963
Molecular consequence:
  • NM_000260.4:c.4757A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.4610A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome, type 1B (USH1B)
Synonyms:
USHER SYNDROME, TYPE IB
Identifiers:
MONDO: MONDO:0700087; MedGen: C2931206

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001455164Natera, Inc.no assertion criteria providedBenign
(May 20, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001455164.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 18, 2021

Support Center