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NM_001350175.2(ATXN7L2):c.1537A>T (p.Thr513Ser) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 22, 2023
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:
RCV004421237.1

Allele description [Variation Report for NM_001350175.2(ATXN7L2):c.1537A>T (p.Thr513Ser)]

NM_001350175.2(ATXN7L2):c.1537A>T (p.Thr513Ser)

Gene:
ATXN7L2:ataxin 7 like 2 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.3
Genomic location:
Preferred name:
NM_001350175.2(ATXN7L2):c.1537A>T (p.Thr513Ser)
HGVS:
  • NC_000001.11:g.109491004A>T
  • NG_164144.1:g.248A>T
  • NM_001350174.1:c.1537A>T
  • NM_001350175.2:c.1537A>TMANE SELECT
  • NM_001350177.2:c.1363A>T
  • NM_153340.5:c.1441A>T
  • NP_001337103.1:p.Thr513Ser
  • NP_001337104.1:p.Thr513Ser
  • NP_001337106.1:p.Thr455Ser
  • NP_699171.3:p.Thr481Ser
  • NC_000001.10:g.110033626A>T
  • NM_153340.4:c.1441A>T
Protein change:
T455S
Molecular consequence:
  • NM_001350174.1:c.1537A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350175.2:c.1537A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350177.2:c.1363A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153340.5:c.1441A>T - 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
SCV004914150Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 22, 2023) 		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, SCV004914150.1

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 7, 2024