NM_178828.5(SPATA31E1):c.3187G>A (p.Asp1063Asn) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 12, 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:: RCV004462449.1

Allele description [Variation Report for NM_178828.5(SPATA31E1):c.3187G>A (p.Asp1063Asn)]

NM_178828.5(SPATA31E1):c.3187G>A (p.Asp1063Asn)

Genes:

SPATA31E1:SPATA31 subfamily E member 1 [Gene - HGNC]
LOC497256:uncharacterized LOC497256 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.1

Genomic location:

Preferred name:

NM_178828.5(SPATA31E1):c.3187G>A (p.Asp1063Asn)

HGVS:

NC_000009.12:g.87887674G>A
NM_178828.5:c.3187G>AMANE SELECT
NP_849150.3:p.Asp1063Asn
NC_000009.11:g.90502589G>A
NM_178828.4:c.3187G>A

Protein change:

D1063N

Molecular consequence:

NM_178828.5:c.3187G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Transcription elongation factor B polypeptide 1 [Heterocephalus glaber]
Transcription elongation factor B polypeptide 1 [Heterocephalus glaber]
gi|351701725|gb|EHB04644.1||gnl|WGS |GW7_21390

Protein
Homo sapiens gamma-tubulin (TUBG2) mRNA, complete cds
Homo sapiens gamma-tubulin (TUBG2) mRNA, complete cds
gi|6970072|gb|AF225971.1|

Nucleotide
Glossary: clinical - Urinary Incontinence in Neurological Disease
Glossary: clinical - Urinary Incontinence in Neurological Disease
rapgef3 Rap guanine nucleotide exchange factor (GEF) 3 [Danio rerio]
rapgef3 Rap guanine nucleotide exchange factor (GEF) 3 [Danio rerio]
Gene ID:101886094

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004957442	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 12, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004957442

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 12, 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, SCV004957442.1

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

Description

The c.3187G>A (p.D1063N) alteration is located in exon 4 (coding exon 4) of the SPATA31E1 gene. This alteration results from a G to A substitution at nucleotide position 3187, causing the aspartic acid (D) at amino acid position 1063 to be replaced by an asparagine (N). 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: May 7, 2024

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