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NM_003673.4(TCAP):c.16C>A (p.Leu6Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 6, 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:
RCV000037791.5

Allele description [Variation Report for NM_003673.4(TCAP):c.16C>A (p.Leu6Met)]

NM_003673.4(TCAP):c.16C>A (p.Leu6Met)

Gene:
TCAP:titin-cap [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_003673.4(TCAP):c.16C>A (p.Leu6Met)
HGVS:
  • NC_000017.11:g.39665375C>A
  • NG_008892.1:g.5030C>A
  • NG_042278.1:g.2395C>A
  • NM_003673.4:c.16C>AMANE SELECT
  • NP_003664.1:p.Leu6Met
  • NP_003664.1:p.Leu6Met
  • LRG_210t1:c.16C>A
  • LRG_210:g.5030C>A
  • LRG_210p1:p.Leu6Met
  • NC_000017.10:g.37821628C>A
  • NM_003673.3:c.16C>A
  • c.16C>A
Protein change:
L6M
Links:
dbSNP: rs201664428
NCBI 1000 Genomes Browser:
rs201664428
Molecular consequence:
  • NM_003673.4:c.16C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000061453Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Dec 6, 2012) 		germlineclinical testing

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

Help

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, Mass General Brigham Personalized Medicine, SCV000061453.6

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

Description

The Leu6Met variant in TCAP has not been reported in the literature nor previous ly identified by our laboratory. This variant has not been identified in large a nd broad European American and African American populations by the NHLBI Exome S equencing Project (http://evs.gs.washington.edu/EVS), but was identified in 1/12 2 African American chromosomes from a broad population by the 1000 Genomes proje ct (dbSNP rs201664428). It remains possible that this variant is common in other populations. Computational analyses (biochemical amino acid properties, conserv ation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or agai nst an impact to the protein. In summary, additional information is needed to fu ll assess the clinical significance of this variant.

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

Last Updated: Oct 8, 2024