NM_178828.5(SPATA31E1):c.3527A>G (p.Asp1176Gly) 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:: RCV004462453.1

Allele description [Variation Report for NM_178828.5(SPATA31E1):c.3527A>G (p.Asp1176Gly)]

NM_178828.5(SPATA31E1):c.3527A>G (p.Asp1176Gly)

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.3527A>G (p.Asp1176Gly)

HGVS:

NC_000009.12:g.87888014A>G
NM_178828.5:c.3527A>GMANE SELECT
NP_849150.3:p.Asp1176Gly
NC_000009.11:g.90502929A>G
NM_178828.4:c.3527A>G

Protein change:

D1176G

Molecular consequence:

NM_178828.5:c.3527A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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PREDICTED: Rattus norvegicus ankyrin 2 (Ank2), transcript variant X40, mRNA
PREDICTED: Rattus norvegicus ankyrin 2 (Ank2), transcript variant X40, mRNA
gi|2678919678|ref|XM_039104040.2|

Nucleotide
Expression vector pMC-12-2-3, complete sequence
Expression vector pMC-12-2-3, complete sequence
gi|2710591522|gb|PP576065.1|

Nucleotide
core protein [Cloning vector pcDNA3.1Zeo(-)-HBV1.1- F]
core protein [Cloning vector pcDNA3.1Zeo(-)-HBV1.1- F]
gi|1784311018|gb|QGX02080.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004957446	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 22, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004957446

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 22, 2023)

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, SCV004957446.1

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

Description

The c.3527A>G (p.D1176G) alteration is located in exon 4 (coding exon 4) of the SPATA31E1 gene. This alteration results from a A to G substitution at nucleotide position 3527, causing the aspartic acid (D) at amino acid position 1176 to be replaced by a glycine (G). 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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