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NM_001146079.2(CLDN14):c.102G>A (p.Ala34=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 22, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000607610.4

Allele description [Variation Report for NM_001146079.2(CLDN14):c.102G>A (p.Ala34=)]

NM_001146079.2(CLDN14):c.102G>A (p.Ala34=)

Genes:
CLDN14-AS1:CLDN14 antisense RNA 1 [Gene - HGNC]
CLDN14:claudin 14 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.13
Genomic location:
Preferred name:
NM_001146079.2(CLDN14):c.102G>A (p.Ala34=)
HGVS:
  • NC_000021.9:g.36461594C>T
  • NG_011777.1:g.119976G>A
  • NM_001146077.2:c.102G>A
  • NM_001146078.3:c.102G>A
  • NM_001146079.2:c.102G>AMANE SELECT
  • NM_012130.4:c.102G>A
  • NM_144492.3:c.102G>A
  • NP_001139549.1:p.Ala34=
  • NP_001139549.1:p.Ala34=
  • NP_001139550.1:p.Ala34=
  • NP_001139551.1:p.Ala34=
  • NP_036262.1:p.Ala34=
  • NP_652763.1:p.Ala34=
  • NC_000021.8:g.37833892C>T
  • NM_001146077.1:c.102G>A
  • NM_144492.2:c.102G>A
  • p.Ala34Ala
Links:
dbSNP: rs146395322
NCBI 1000 Genomes Browser:
rs146395322
Molecular consequence:
  • NM_001146077.2:c.102G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001146078.3:c.102G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001146079.2:c.102G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_012130.4:c.102G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_144492.3:c.102G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000710994Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely benign
(Sep 22, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not 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, Mass General Brigham Personalized Medicine, SCV000710994.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

p.Ala34Ala in exon 3 of CLDN14: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 27/77276 of the tota l chromosomes in the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs146395322).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Oct 20, 2024