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NM_005157.6(ABL1):c.683T>C (p.Val228Ala) AND Congenital heart defects and skeletal malformations syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 10, 2024
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:
RCV003993711.1

Allele description [Variation Report for NM_005157.6(ABL1):c.683T>C (p.Val228Ala)]

NM_005157.6(ABL1):c.683T>C (p.Val228Ala)

Gene:
ABL1:ABL proto-oncogene 1, non-receptor tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.12
Genomic location:
Preferred name:
NM_005157.6(ABL1):c.683T>C (p.Val228Ala)
HGVS:
  • NC_000009.12:g.130862896T>C
  • NG_012034.1:g.154016T>C
  • NG_117826.1:g.510T>C
  • NG_117827.1:g.9T>C
  • NM_005157.6:c.683T>CMANE SELECT
  • NM_007313.3:c.740T>C
  • NP_005148.2:p.Val228Ala
  • NP_009297.2:p.Val247Ala
  • LRG_769t1:c.683T>C
  • LRG_769t2:c.740T>C
  • LRG_769:g.154016T>C
  • LRG_769p1:p.Val228Ala
  • LRG_769p2:p.Val247Ala
  • NC_000009.11:g.133738283T>C
Protein change:
V228A
Molecular consequence:
  • NM_005157.6:c.683T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007313.3:c.740T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital heart defects and skeletal malformations syndrome
Identifiers:
MONDO: MONDO:0060532; MedGen: C4539857; OMIM: 617602

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004812012Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 10, 2024) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, SCV004812012.1

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

Description

The variant has not yet been reported to online databases (dbSNP, ClinVar, gnomAD). Bioinformatic predicition tools predict a damaging effect (SIFT (v6.2.0), REVEL (v2021-05-03), MutationTaster (v2021)). ACMG criteria are PM2, PP3. The variant meets our criteria to be classified as VUS.

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

Last Updated: Jul 15, 2024