U.S. flag

An official website of the United States government

NM_000260.4(MYO7A):c.510G>A (p.Leu170=) AND Usher syndrome type 1B

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 6, 2019
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:
RCV001831639.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.510G>A (p.Leu170=)]

NM_000260.4(MYO7A):c.510G>A (p.Leu170=)

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.510G>A (p.Leu170=)
HGVS:
  • NC_000011.10:g.77156699G>A
  • NG_009086.2:g.33454G>A
  • NM_000260.4:c.510G>AMANE SELECT
  • NM_001127180.2:c.510G>A
  • NM_001369365.1:c.477G>A
  • NP_000251.3:p.Leu170=
  • NP_001120652.1:p.Leu170=
  • NP_001356294.1:p.Leu159=
  • LRG_1420t1:c.510G>A
  • LRG_1420:g.33454G>A
  • LRG_1420p1:p.Leu170=
  • NC_000011.9:g.76867745G>A
  • NG_009086.1:g.33436G>A
  • NM_000260.3:c.510G>A
  • c.510G>A
  • p.Leu170Leu
Links:
dbSNP: rs34477144
NCBI 1000 Genomes Browser:
rs34477144
Molecular consequence:
  • NM_000260.4:c.510G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127180.2:c.510G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369365.1:c.477G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002093121Natera, Inc.
no assertion criteria provided
Benign
(Dec 6, 2019)
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., SCV002093121.1

#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: Nov 24, 2024