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NM_005157.6(ABL1):c.677A>G (p.Tyr226Cys) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 22, 2021
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:
RCV001796027.2

Allele description [Variation Report for NM_005157.6(ABL1):c.677A>G (p.Tyr226Cys)]

NM_005157.6(ABL1):c.677A>G (p.Tyr226Cys)

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.677A>G (p.Tyr226Cys)
HGVS:
  • NC_000009.12:g.130862890A>G
  • NG_012034.1:g.154010A>G
  • NM_005157.6:c.677A>GMANE SELECT
  • NM_007313.3:c.734A>G
  • NP_005148.2:p.Tyr226Cys
  • NP_009297.2:p.Tyr245Cys
  • NP_009297.2:p.Tyr245Cys
  • LRG_769t1:c.677A>G
  • LRG_769t2:c.734A>G
  • LRG_769:g.154010A>G
  • LRG_769p1:p.Tyr226Cys
  • LRG_769p2:p.Tyr245Cys
  • NC_000009.11:g.133738277A>G
  • NM_007313.2:c.734A>G
Protein change:
Y226C; TYR245CYS
Links:
OMIM: 189980.0007; dbSNP: rs1060499547
NCBI 1000 Genomes Browser:
rs1060499547
Molecular consequence:
  • NM_005157.6:c.677A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007313.3:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002032419GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Oct 22, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV002032419.2

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

Description

Published functional studies demonstrate that this variant leads to a gain of function with increased ABL kinase activity (Wang et al., 2017); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 28288113)

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

Last Updated: Jul 15, 2024