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NM_001330.5(CTF1):c.275C>A (p.Ala92Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 30, 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:
RCV000150375.4

Allele description [Variation Report for NM_001330.5(CTF1):c.275C>A (p.Ala92Glu)]

NM_001330.5(CTF1):c.275C>A (p.Ala92Glu)

Genes:
LOC130058878:ATAC-STARR-seq lymphoblastoid silent region 7400 [Gene]
CTF1:cardiotrophin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_001330.5(CTF1):c.275C>A (p.Ala92Glu)
HGVS:
  • NC_000016.10:g.30902208C>A
  • NG_009171.1:g.10602C>A
  • NM_001142544.3:c.272C>A
  • NM_001330.5:c.275C>AMANE SELECT
  • NP_001136016.1:p.Ala91Glu
  • NP_001321.1:p.Ala92Glu
  • NP_001321.1:p.Ala92Glu
  • LRG_408t1:c.275C>A
  • LRG_408:g.10602C>A
  • LRG_408p1:p.Ala92Glu
  • NC_000016.9:g.30913529C>A
  • NM_001330.3:c.275C>A
  • NR_165660.1:n.413C>A
Protein change:
A91E
Links:
dbSNP: rs727502949
NCBI 1000 Genomes Browser:
rs727502949
Molecular consequence:
  • NM_001142544.3:c.272C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330.5:c.275C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165660.1:n.413C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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
SCV000197507Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Sep 30, 2013) 		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, SCV000197507.4

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

Description

The Ala92Glu variant in CTF1 has not been reported in individuals with cardiomyo pathy. Data from large population studies is insufficient to assess the frequenc y of this variant. Computational analyses (biochemical amino acid properties, co nservation, AlignGVGD, PolyPhen2, and SIFT) suggest that this variant may not im pact the protein, though this information is not predictive enough to rule out p athogenicity. Additional information is needed to fully assess the clinical sign ificance of the Ala92Glu variant.

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

Last Updated: Sep 29, 2024