NM_018144.4(SEC61A2):c.1042C>G (p.Pro348Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 20, 2022
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:: RCV004180186.1

Allele description [Variation Report for NM_018144.4(SEC61A2):c.1042C>G (p.Pro348Ala)]

NM_018144.4(SEC61A2):c.1042C>G (p.Pro348Ala)

Gene:

SEC61A2:SEC61 translocon subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p14

Genomic location:

Preferred name:

NM_018144.4(SEC61A2):c.1042C>G (p.Pro348Ala)

HGVS:

NC_000010.11:g.12160996C>G
NM_001142627.3:c.1042C>G
NM_001142628.1:c.976C>G
NM_018144.4:c.1042C>GMANE SELECT
NP_001136099.1:p.Pro348Ala
NP_001136100.1:p.Pro326Ala
NP_060614.2:p.Pro348Ala
NC_000010.10:g.12202995C>G
NM_018144.3:c.1042C>G
NR_024576.3:n.1153C>G
NR_024577.3:n.1286C>G

Protein change:

P326A

Molecular consequence:

NM_001142627.3:c.1042C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001142628.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_018144.4:c.1042C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_024576.3:n.1153C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_024577.3:n.1286C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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SH3 domain-containing YSC84-like protein 1 isoform X3 [Sapajus apella]
SH3 domain-containing YSC84-like protein 1 isoform X3 [Sapajus apella]
gi|1804389716|ref|XP_032150188.1|

Protein
SH3 domain-containing YSC84-like protein 1 isoform X4 [Sapajus apella]
SH3 domain-containing YSC84-like protein 1 isoform X4 [Sapajus apella]
gi|1804389718|ref|XP_032150189.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003667450	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 20, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003667450

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 20, 2022)

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, SCV003667450.2

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

Description

The c.1042C>G (p.P348A) alteration is located in exon 10 (coding exon 10) of the SEC61A2 gene. This alteration results from a C to G substitution at nucleotide position 1042, causing the proline (P) at amino acid position 348 to be replaced by an alanine (A). 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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