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NM_001018005.2(TPM1):c.743A>C (p.Lys248Thr) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 9, 2011
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:
RCV000159412.1

Allele description [Variation Report for NM_001018005.2(TPM1):c.743A>C (p.Lys248Thr)]

NM_001018005.2(TPM1):c.743A>C (p.Lys248Thr)

Gene:
TPM1:tropomyosin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.2
Genomic location:
Preferred name:
NM_001018005.2(TPM1):c.743A>C (p.Lys248Thr)
Other names:
p.K248T:AAA>ACA
HGVS:
  • NC_000015.10:g.63062616A>C
  • NG_007557.1:g.24978A>C
  • NM_000366.6:c.743A>C
  • NM_001018004.2:c.743A>C
  • NM_001018005.2:c.743A>CMANE SELECT
  • NM_001018006.2:c.743A>C
  • NM_001018007.2:c.743A>C
  • NM_001018008.2:c.635A>C
  • NM_001018020.2:c.743A>C
  • NM_001301244.2:c.743A>C
  • NM_001301289.2:c.635A>C
  • NM_001330344.2:c.635A>C
  • NM_001330346.2:c.635A>C
  • NM_001330351.2:c.635A>C
  • NM_001365776.1:c.743A>C
  • NM_001365777.1:c.743A>C
  • NM_001365778.1:c.869A>C
  • NM_001365779.1:c.743A>C
  • NM_001365780.1:c.635A>C
  • NM_001365781.2:c.635A>C
  • NM_001365782.1:c.635A>C
  • NP_000357.3:p.Lys248Thr
  • NP_001018004.1:p.Lys248Thr
  • NP_001018005.1:p.Lys248Thr
  • NP_001018006.1:p.Lys248Thr
  • NP_001018007.1:p.Lys248Thr
  • NP_001018008.1:p.Lys212Thr
  • NP_001018020.1:p.Lys248Thr
  • NP_001288173.1:p.Lys248Thr
  • NP_001288218.1:p.Lys212Thr
  • NP_001317273.1:p.Lys212Thr
  • NP_001317275.1:p.Lys212Thr
  • NP_001317280.1:p.Lys212Thr
  • NP_001352705.1:p.Lys248Thr
  • NP_001352706.1:p.Lys248Thr
  • NP_001352707.1:p.Lys290Thr
  • NP_001352708.1:p.Lys248Thr
  • NP_001352709.1:p.Lys212Thr
  • NP_001352710.1:p.Lys212Thr
  • NP_001352711.1:p.Lys212Thr
  • LRG_387t1:c.743A>C
  • LRG_387:g.24978A>C
  • LRG_387p1:p.Lys248Thr
  • NC_000015.9:g.63354815A>C
  • NM_001018005.1:c.743A>C
Protein change:
K212T
Links:
dbSNP: rs730881160
NCBI 1000 Genomes Browser:
rs730881160
Molecular consequence:
  • NM_000366.6:c.743A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018004.2:c.743A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018005.2:c.743A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018006.2:c.743A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018007.2:c.743A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018008.2:c.635A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018020.2:c.743A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301244.2:c.743A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301289.2:c.635A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330344.2:c.635A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330346.2:c.635A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330351.2:c.635A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365776.1:c.743A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365777.1:c.743A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365778.1:c.869A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365779.1:c.743A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365780.1:c.635A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365781.2:c.635A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365782.1:c.635A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000209358GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Aug 9, 2011) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000209358.10

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

Description

The Lys248Thr variant in the TPM1 gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. Lys248Thr is a semi-conservative amino acid substitution of positively charged Lysine residue with a neutral Threonine residue at a position that is highly conserved throughout evolution. In silico analysis predicts Lys248Thr to be disease-causing and probably damaging to the protein structure/function. Furthermore, the Lys248Thr variant was not identified in up to 200 alleles from control individuals of Caucasian ancestry tested at GeneDx, indicating it is not a common benign polymorphism in this population. In summary, while the Lys248Thr variant in the TPM1 gene is a good candidate for a disease-causing mutation, we cannot unequivocally conclude whether this is a disease-causing mutation or a rare benign variant. The variant is found in DCM panel(s).

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

Last Updated: Sep 29, 2024