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NM_005422.4(TECTA):c.4011G>A (p.Ala1337=) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 30, 2012
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:
RCV000038492.5

Allele description [Variation Report for NM_005422.4(TECTA):c.4011G>A (p.Ala1337=)]

NM_005422.4(TECTA):c.4011G>A (p.Ala1337=)

Genes:
TBCEL-TECTA:TBCEL-TECTA readthrough [Gene - HGNC]
TECTA:tectorin alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_005422.4(TECTA):c.4011G>A (p.Ala1337=)
HGVS:
  • NC_000011.10:g.121146022G>A
  • NG_011633.1:g.48357G>A
  • NM_001378761.1:c.4968G>A
  • NM_005422.4:c.4011G>AMANE SELECT
  • NP_001365690.1:p.Ala1656=
  • NP_005413.2:p.Ala1337=
  • NP_005413.2:p.Ala1337=
  • NC_000011.9:g.121016731G>A
  • NM_005422.2:c.4011G>A
  • c.4011G>A
  • p.Ala1337Ala
Links:
dbSNP: rs144441070
NCBI 1000 Genomes Browser:
rs144441070
Molecular consequence:
  • NM_001378761.1:c.4968G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005422.4:c.4011G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
8

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
SCV000062170Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Benign
(Apr 30, 2012) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided88not 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, SCV000062170.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided8not providednot providedclinical testing PubMed (1)

Description

Ala1337Ala in Exon 11 of TECTA: 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 1.8% (68/3738) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs144441070).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided8not provided8not provided

Last Updated: Sep 29, 2024