NM_001135995.2(ATXN3L):c.763A>G (p.Met255Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 28, 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:: RCV004364636.1

Allele description [Variation Report for NM_001135995.2(ATXN3L):c.763A>G (p.Met255Val)]

NM_001135995.2(ATXN3L):c.763A>G (p.Met255Val)

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.763A>G (p.Met255Val)

HGVS:

NC_000023.11:g.13319172T>C
NG_021356.1:g.6228A>G
NM_001135995.1:c.763A>G
NM_001135995.2:c.763A>GMANE SELECT
NM_001387036.1:c.499A>G
NP_001129467.1:p.Met255Val
NP_001373965.1:p.Met167Val
NC_000023.10:g.13337291T>C
NR_003585.1:n.1236A>G
NR_046087.1:n.1613T>C

Protein change:

M167V

Molecular consequence:

NM_001135995.2:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387036.1:c.499A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_046087.1:n.1613T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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PREDICTED: Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript va...
PREDICTED: Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant X11, mRNA
gi|2462517213|ref|XM_054364899.1|

Nucleotide
FERM and PDZ domain-containing protein 2 isoform X3 [Homo sapiens]
FERM and PDZ domain-containing protein 2 isoform X3 [Homo sapiens]
gi|2462517216|ref|XP_054220875.1|

Protein
PREDICTED: Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript va...
PREDICTED: Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant X2, mRNA
gi|2217275646|ref|XM_047424653.1|

Nucleotide
FERM and PDZ domain-containing protein 2 isoform 5 precursor [Homo sapiens]
FERM and PDZ domain-containing protein 2 isoform 5 precursor [Homo sapiens]
gi|970598251|ref|NP_001305120.1|

Protein
Homo sapiens potassium two pore domain channel subfamily K member 10 (KCNK10), t...
Homo sapiens potassium two pore domain channel subfamily K member 10 (KCNK10), transcript variant 1, mRNA
gi|1890276200|ref|NM_021161.5|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004914101	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 28, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004914101

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 28, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004914101.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.763A>G (p.M255V) alteration is located in exon 1 (coding exon 1) of the ATXN3L gene. This alteration results from a A to G substitution at nucleotide position 763, causing the methionine (M) at amino acid position 255 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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