NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) AND not provided

Germline classification:: Benign (3 submissions)
Last evaluated:: Nov 30, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001573570.20

Allele description [Variation Report for NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile)]

NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile)

Gene:

SEC23B:SEC23 homolog B, COPII coat complex component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p11.23

Genomic location:

Preferred name:

NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile)

HGVS:

NC_000020.11:g.18532706G>A
NG_016281.2:g.30225G>A
NM_001172745.3:c.1276G>A
NM_001172746.3:c.1222G>A
NM_006363.6:c.1276G>AMANE SELECT
NM_032985.6:c.1276G>A
NM_032986.5:c.1276G>A
NP_001166216.1:p.Val426Ile
NP_001166217.1:p.Val408Ile
NP_006354.2:p.Val426Ile
NP_116780.1:p.Val426Ile
NP_116781.1:p.Val426Ile
LRG_1134t1:c.1276G>A
LRG_1134:g.30225G>A
LRG_1134p1:p.Val426Ile
NC_000020.10:g.18513350G>A
NM_006363.4:c.1276G>A
Q15437:p.Val426Ile

Protein change:

V408I

Links:

UniProtKB: Q15437#VAR_062303; dbSNP: rs41309927

NCBI 1000 Genomes Browser:

rs41309927

Molecular consequence:

NM_001172745.3:c.1276G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001172746.3:c.1222G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006363.6:c.1276G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_032985.6:c.1276G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_032986.5:c.1276G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001471658	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Nov 30, 2023)	germline	clinical testing	Citation Link,
SCV001799637	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001898636	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Jan 16, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001471658

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Benign
(Nov 30, 2023)

germline

clinical testing

Citation Link,

SCV001799637

Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus

no assertion criteria provided

Likely benign

germline

clinical testing

SCV001898636

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Jan 16, 2020)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001471658.7

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

#	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

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001799637.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV001898636.1

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

Description

This variant is associated with the following publications: (PMID: 32641076, 27884173, 19561605, 22208203, 20981092, 22995991)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 26, 2024

ClinVar

Relating variation to medicine