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NM_007245.4(ATXN2L):c.3119G>A (p.Gly1040Glu) AND not specified

Germline classification:
Uncertain significance (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:
RCV004421178.1

Allele description [Variation Report for NM_007245.4(ATXN2L):c.3119G>A (p.Gly1040Glu)]

NM_007245.4(ATXN2L):c.3119G>A (p.Gly1040Glu)

Gene:
ATXN2L:ataxin 2 like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_007245.4(ATXN2L):c.3119G>A (p.Gly1040Glu)
HGVS:
  • NC_000016.10:g.28836156G>A
  • NM_001308230.2:c.3137G>A
  • NM_001387166.1:c.3137G>A
  • NM_001387167.1:c.3119G>A
  • NM_001387168.1:c.3119G>A
  • NM_001387169.1:c.3103+34G>A
  • NM_001387170.1:c.3103+34G>A
  • NM_001387171.1:c.3140G>A
  • NM_001387172.1:c.3137G>A
  • NM_001387173.1:c.3088+34G>A
  • NM_001387174.1:c.3085+34G>A
  • NM_001387175.1:c.3085+34G>A
  • NM_001387176.1:c.3085+34G>A
  • NM_001387177.1:c.3085+34G>A
  • NM_001387178.1:c.3122G>A
  • NM_001387179.1:c.3047G>A
  • NM_001387180.1:c.3113G>A
  • NM_001387181.1:c.3140G>A
  • NM_001387182.1:c.3137G>A
  • NM_001387183.1:c.3122G>A
  • NM_001387184.1:c.3122G>A
  • NM_001387185.1:c.3013+34G>A
  • NM_001387186.1:c.3050G>A
  • NM_001387187.1:c.3050G>A
  • NM_001387188.1:c.3047G>A
  • NM_001387189.1:c.3103+34G>A
  • NM_001387190.1:c.3103+34G>A
  • NM_001387191.1:c.3088+34G>A
  • NM_001387192.1:c.3088+34G>A
  • NM_001387193.1:c.3103+34G>A
  • NM_001387194.1:c.3088+34G>A
  • NM_001387195.1:c.3085+34G>A
  • NM_001387196.1:c.3085+34G>A
  • NM_001387197.1:c.3065G>A
  • NM_001387198.1:c.3085+34G>A
  • NM_001387199.1:c.3016+34G>A
  • NM_001387200.1:c.3031+34G>A
  • NM_001387202.1:c.3013+34G>A
  • NM_001387203.1:c.2930G>A
  • NM_001387204.1:c.2929G>A
  • NM_007245.4:c.3119G>AMANE SELECT
  • NM_017492.4:c.3119G>A
  • NM_145714.3:c.3119G>A
  • NM_148414.3:c.3119G>A
  • NM_148415.3:c.3085+34G>A
  • NM_148416.3:c.3085+34G>A
  • NP_001295159.1:p.Gly1046Glu
  • NP_001374095.1:p.Gly1046Glu
  • NP_001374096.1:p.Gly1040Glu
  • NP_001374097.1:p.Gly1040Glu
  • NP_001374100.1:p.Gly1047Glu
  • NP_001374101.1:p.Gly1046Glu
  • NP_001374107.1:p.Gly1041Glu
  • NP_001374108.1:p.Gly1016Glu
  • NP_001374109.1:p.Gly1038Glu
  • NP_001374110.1:p.Gly1047Glu
  • NP_001374111.1:p.Gly1046Glu
  • NP_001374112.1:p.Gly1041Glu
  • NP_001374113.1:p.Gly1041Glu
  • NP_001374115.1:p.Gly1017Glu
  • NP_001374116.1:p.Gly1017Glu
  • NP_001374117.1:p.Gly1016Glu
  • NP_001374126.1:p.Gly1022Glu
  • NP_001374132.1:p.Gly977Glu
  • NP_001374133.1:p.Glu977Lys
  • NP_009176.2:p.Gly1040Glu
  • NP_059867.3:p.Gly1040Glu
  • NP_663760.1:p.Gly1040Glu
  • NP_680780.1:p.Gly1040Glu
  • NC_000016.9:g.28847477G>A
  • NM_148414.1:c.3119G>A
Protein change:
E977K
Molecular consequence:
  • NM_001387169.1:c.3103+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387170.1:c.3103+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387173.1:c.3088+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387174.1:c.3085+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387175.1:c.3085+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387176.1:c.3085+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387177.1:c.3085+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387185.1:c.3013+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387189.1:c.3103+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387190.1:c.3103+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387191.1:c.3088+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387192.1:c.3088+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387193.1:c.3103+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387194.1:c.3088+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387195.1:c.3085+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387196.1:c.3085+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387198.1:c.3085+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387199.1:c.3016+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387200.1:c.3031+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387202.1:c.3013+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_148415.3:c.3085+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_148416.3:c.3085+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001308230.2:c.3137G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387166.1:c.3137G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387167.1:c.3119G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387168.1:c.3119G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387171.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387172.1:c.3137G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387178.1:c.3122G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387179.1:c.3047G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387180.1:c.3113G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387181.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387182.1:c.3137G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387183.1:c.3122G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387184.1:c.3122G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387186.1:c.3050G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387187.1:c.3050G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387188.1:c.3047G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387197.1:c.3065G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387203.1:c.2930G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387204.1:c.2929G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007245.4:c.3119G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017492.4:c.3119G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145714.3:c.3119G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_148414.3:c.3119G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004914089Ambry Genetics
    criteria provided, single submitter

    (Ambry Variant Classification Scheme 2023)    		Uncertain significance
    (Dec 22, 2023)     		germlineclinical testing

    Citation Link

    Help

    Summary from all submissions

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

    Details of each submission

    From Ambry Genetics, SCV004914089.1

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

    Description

    The c.3119G>A (p.G1040E) alteration is located in exon 22 (coding exon 22) of the ATXN2L gene. This alteration results from a G to A substitution at nucleotide position 3119, causing the glycine (G) at amino acid position 1040 to be replaced by a glutamic acid (E). 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: May 7, 2024