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NM_033127.4(SEC16B):c.2687A>G (p.Gln896Arg) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 16, 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:
RCV004447582.1

Allele description [Variation Report for NM_033127.4(SEC16B):c.2687A>G (p.Gln896Arg)]

NM_033127.4(SEC16B):c.2687A>G (p.Gln896Arg)

Genes:
CRYZL2P-SEC16B:CRYZL2P-SEC16B readthrough [Gene - HGNC]
SEC16B:SEC16 homolog B, endoplasmic reticulum export factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q25.2
Genomic location:
Preferred name:
NM_033127.4(SEC16B):c.2687A>G (p.Gln896Arg)
HGVS:
  • NC_000001.11:g.177933521T>C
  • NM_001356505.2:c.2687A>G
  • NM_001356506.2:c.2687A>G
  • NM_001390833.1:c.2687A>G
  • NM_001390834.1:c.2690A>G
  • NM_001390835.1:c.2690A>G
  • NM_033127.4:c.2687A>GMANE SELECT
  • NP_001343434.1:p.Gln896Arg
  • NP_001343435.1:p.Gln896Arg
  • NP_001377762.1:p.Gln896Arg
  • NP_001377763.1:p.Gln897Arg
  • NP_001377764.1:p.Gln897Arg
  • NP_149118.2:p.Gln896Arg
  • NC_000001.10:g.177902656T>C
  • NM_033127.2:c.2687A>G
Protein change:
Q896R
Molecular consequence:
  • NM_001356505.2:c.2687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001356506.2:c.2687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001390833.1:c.2687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001390834.1:c.2690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001390835.1:c.2690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033127.4:c.2687A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004944428Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 16, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004944428.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024