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NM_001001670.3(SPATA31D1):c.2996G>A (p.Gly999Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 3, 2023
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV004460398.1

Allele description [Variation Report for NM_001001670.3(SPATA31D1):c.2996G>A (p.Gly999Glu)]

NM_001001670.3(SPATA31D1):c.2996G>A (p.Gly999Glu)

Gene:
SPATA31D1:SPATA31 subfamily D member 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q21.32
Genomic location:
Preferred name:
NM_001001670.3(SPATA31D1):c.2996G>A (p.Gly999Glu)
HGVS:
  • NC_000009.12:g.81993466G>A
  • NM_001001670.3:c.2996G>AMANE SELECT
  • NP_001001670.1:p.Gly999Glu
  • NC_000009.11:g.84608381G>A
  • NM_001001670.2:c.2996G>A
Protein change:
G999E
Molecular consequence:
  • NM_001001670.3:c.2996G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004956816Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Oct 3, 2023)
germlineclinical testing

Citation Link

Last Updated: May 7, 2024

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