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NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 18, 2013
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:
RCV000247348.9

Allele description [Variation Report for NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)]

NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)

Genes:
LOC126806429:BRD4-independent group 4 enhancer GRCh37_chr2:179591393-179592592 [Gene]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)
Other names:
p.M6399K:ATG>AAG
HGVS:
  • NC_000002.12:g.178727218A>T
  • NG_011618.3:g.108585T>A
  • NG_082749.1:g.653A>T
  • NM_001256850.1:c.19196T>A
  • NM_001267550.2:c.20147T>AMANE SELECT
  • NM_003319.4:c.13282+10864T>A
  • NM_133378.4:c.16415T>A
  • NM_133432.3:c.13657+10864T>A
  • NM_133437.4:c.13858+10864T>A
  • NP_001243779.1:p.Met6399Lys
  • NP_001254479.1:p.Met6716Lys
  • NP_001254479.2:p.Met6716Lys
  • NP_596869.4:p.Met5472Lys
  • LRG_391t1:c.20147T>A
  • LRG_391:g.108585T>A
  • LRG_391p1:p.Met6716Lys
  • NC_000002.11:g.179591945A>T
  • NM_001267550.1:c.20147T>A
  • NM_001267550.1:c.20147T>A
  • NM_133379.3:c.*18367T>A
  • c.16415T>A
Protein change:
M5472K
Links:
dbSNP: rs28626194
NCBI 1000 Genomes Browser:
rs28626194
Molecular consequence:
  • NM_003319.4:c.13282+10864T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+10864T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+10864T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.19196T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.20147T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.16415T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000318203Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Benign
(Sep 18, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000318203.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 30, 2024