NM_001170795.4(ATRAID):c.13G>T (p.Asp5Tyr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 6, 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:: RCV004271968.1

Allele description [Variation Report for NM_001170795.4(ATRAID):c.13G>T (p.Asp5Tyr)]

NM_001170795.4(ATRAID):c.13G>T (p.Asp5Tyr)

Genes:

LOC129933365:ATAC-STARR-seq lymphoblastoid silent region 11290 [Gene]
ATRAID:all-trans retinoic acid induced differentiation factor [Gene - OMIM - HGNC]
SLC5A6:solute carrier family 5 member 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

Preferred name:

NM_001170795.4(ATRAID):c.13G>T (p.Asp5Tyr)

Other names:

NM_080592.3:c.178G>T

HGVS:

NC_000002.12:g.27212381G>T
NM_001170795.4:c.13G>TMANE SELECT
NM_016085.5:c.-302G>T
NP_001164266.1:p.Asp5Tyr
NC_000002.11:g.27435249G>T

Protein change:

D5Y

Molecular consequence:

NM_016085.5:c.-302G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001170795.4:c.13G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Mus musculus strain C57BL/6 SCY1-like 1 splice variant 15 (Scyl1) mRNA, complete...
Mus musculus strain C57BL/6 SCY1-like 1 splice variant 15 (Scyl1) mRNA, complete cds, alternatively spliced
gi|314913174|gb|HM856326.1|

Nucleotide
PREDICTED: Choloepus didactylus ring finger protein 19A, RBR E3 ubiquitin protei...
PREDICTED: Choloepus didactylus ring finger protein 19A, RBR E3 ubiquitin protein ligase (RNF19A), transcript variant X6, mRNA
gi|1934672809|ref|XM_037802953.1|

Nucleotide
PREDICTED: Choloepus didactylus ring finger protein 19A, RBR E3 ubiquitin protei...
PREDICTED: Choloepus didactylus ring finger protein 19A, RBR E3 ubiquitin protein ligase (RNF19A), transcript variant X4, mRNA
gi|1934672803|ref|XM_037802951.1|

Nucleotide
E3 ubiquitin-protein ligase RNF19A isoform X4 [Lagenorhynchus obliquidens]
E3 ubiquitin-protein ligase RNF19A isoform X4 [Lagenorhynchus obliquidens]
gi|1516145666|ref|XP_026987318.1|

Protein
E3 ubiquitin-protein ligase RNF19A isoform X1 [Lagenorhynchus obliquidens]
E3 ubiquitin-protein ligase RNF19A isoform X1 [Lagenorhynchus obliquidens]
gi|1516145650|ref|XP_026987311.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003895976	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 6, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003895976

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 6, 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, SCV003895976.2

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

Description

The c.178G>T (p.D60Y) alteration is located in exon 1 (coding exon 1) of the ATRAID gene. This alteration results from a G to T substitution at nucleotide position 178, causing the aspartic acid (D) at amino acid position 60 to be replaced by a tyrosine (Y). 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: Nov 10, 2024

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