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NM_001135995.2(ATXN3L):c.113A>C (p.His38Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 21, 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:
RCV004069207.1

Allele description [Variation Report for NM_001135995.2(ATXN3L):c.113A>C (p.His38Pro)]

NM_001135995.2(ATXN3L):c.113A>C (p.His38Pro)

Genes:
ATXN3L:ataxin 3 like [Gene - OMIM - HGNC]
GS1-600G8.3:unknown transcript [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.2
Genomic location:
Preferred name:
NM_001135995.2(ATXN3L):c.113A>C (p.His38Pro)
HGVS:
  • NC_000023.11:g.13319822T>G
  • NG_021356.1:g.5578A>C
  • NM_001135995.2:c.113A>CMANE SELECT
  • NM_001387036.1:c.113A>C
  • NP_001129467.1:p.His38Pro
  • NP_001373965.1:p.His38Pro
  • NC_000023.10:g.13337941T>G
  • NM_001135995.1:c.113A>C
  • NR_003585.1:n.586A>C
  • NR_046087.1:n.2138T>G
Protein change:
H38P
Molecular consequence:
  • NM_001135995.2:c.113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387036.1:c.113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046087.1:n.2138T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003528188Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 21, 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, SCV003528188.2

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

Description

The c.113A>C (p.H38P) alteration is located in exon 1 (coding exon 1) of the ATXN3L gene. This alteration results from a A to C substitution at nucleotide position 113, causing the histidine (H) at amino acid position 38 to be replaced by a proline (P). 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