NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) AND not specified

Clinical significance:Likely benign (Last evaluated: Feb 20, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000825201.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)]

NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)

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.3297C>T (p.Pro1099=)
HGVS:
  • NC_000011.10:g.77183079C>T
  • NG_009086.1:g.59815C>T
  • NG_009086.2:g.59834C>T
  • NM_000260.4:c.3297C>TMANE SELECT
  • NM_001127180.2:c.3297C>T
  • NM_001369365.1:c.3264C>T
  • NP_000251.3:p.Pro1099=
  • NP_001120652.1:p.Pro1099=
  • NP_001356294.1:p.Pro1088=
  • LRG_1420t1:c.3297C>T
  • LRG_1420:g.59834C>T
  • LRG_1420p1:p.Pro1099=
  • NC_000011.9:g.76894124C>T
  • NM_000260.3:c.3297C>T
  • p.Pro1099Pro
Links:
dbSNP: rs367668576
NCBI 1000 Genomes Browser:
rs367668576
Molecular consequence:
  • NM_000260.4:c.3297C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127180.2:c.3297C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369365.1:c.3264C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000966478Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Feb 20, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000966478.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

p.Pro1099Pro in Exon 26 of MYO7A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 9 /22826 of South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broa dinstitute.org; dbSNP rs367668576).

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

Last Updated: Nov 27, 2021

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