U.S. flag

An official website of the United States government

NM_153717.3(EVC):c.1127C>T (p.Ala376Val) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Mar 15, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000842238.17

Allele description [Variation Report for NM_153717.3(EVC):c.1127C>T (p.Ala376Val)]

NM_153717.3(EVC):c.1127C>T (p.Ala376Val)

Gene:
EVC:EvC ciliary complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.2
Genomic location:
Preferred name:
NM_153717.3(EVC):c.1127C>T (p.Ala376Val)
HGVS:
  • NC_000004.12:g.5752864C>T
  • NG_008843.1:g.46668C>T
  • NM_001306090.2:c.1127C>T
  • NM_001306092.2:c.1127C>T
  • NM_153717.3:c.1127C>TMANE SELECT
  • NP_001293019.1:p.Ala376Val
  • NP_001293021.1:p.Ala376Val
  • NP_714928.1:p.Ala376Val
  • NC_000004.11:g.5754591C>T
  • NM_153717.2:c.1127C>T
Protein change:
A376V
Links:
dbSNP: rs142535134
NCBI 1000 Genomes Browser:
rs142535134
Molecular consequence:
  • NM_001306090.2:c.1127C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306092.2:c.1127C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153717.3:c.1127C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV000984242GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Mar 15, 2021)
germlineclinical testing

Citation Link,

SCV001472565ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)
Likely benign
(Jul 2, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000984242.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 24863959)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001472565.1

#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