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NM_139321.3(ATRN):c.580A>G (p.Ile194Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 1, 2022
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:
RCV004072023.1

Allele description [Variation Report for NM_139321.3(ATRN):c.580A>G (p.Ile194Val)]

NM_139321.3(ATRN):c.580A>G (p.Ile194Val)

Gene:
ATRN:attractin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p13
Genomic location:
Preferred name:
NM_139321.3(ATRN):c.580A>G (p.Ile194Val)
HGVS:
  • NC_000020.11:g.3540307A>G
  • NG_029406.1:g.74290A>G
  • NM_001207047.3:c.232A>G
  • NM_001323332.2:c.580A>G
  • NM_139321.2:c.580A>G
  • NM_139321.3:c.580A>GMANE SELECT
  • NM_139322.4:c.580A>G
  • NP_001193976.1:p.Ile78Val
  • NP_001310261.1:p.Ile194Val
  • NP_647537.1:p.Ile194Val
  • NP_647538.1:p.Ile194Val
  • NC_000020.10:g.3520954A>G
Protein change:
I194V
Molecular consequence:
  • NM_001207047.3:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323332.2:c.580A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139321.3:c.580A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139322.4:c.580A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003535584Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 1, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003535584.2

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

Description

The c.580A>G (p.I194V) alteration is located in exon 3 (coding exon 3) of the ATRN gene. This alteration results from a A to G substitution at nucleotide position 580, causing the isoleucine (I) at amino acid position 194 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024