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NM_004568.6(SERPINB6):c.457G>A (p.Gly153Ser) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
May 7, 2012
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:
RCV000037110.7

Allele description

NM_004568.6(SERPINB6):c.457G>A (p.Gly153Ser)

Gene:
SERPINB6:serpin family B member 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p25.2
Genomic location:
Preferred name:
NM_004568.6(SERPINB6):c.457G>A (p.Gly153Ser)
HGVS:
  • NC_000006.12:g.2953160C>T
  • NG_027692.1:g.24006G>A
  • NM_001195291.3:c.469G>A
  • NM_001271822.2:c.499G>A
  • NM_001271823.2:c.514G>A
  • NM_001271824.2:c.457G>A
  • NM_001271825.2:c.457G>A
  • NM_001297699.2:c.457G>A
  • NM_001297700.2:c.457G>A
  • NM_001374515.1:c.469G>A
  • NM_001374516.1:c.457G>A
  • NM_001374517.1:c.325G>A
  • NM_004568.6:c.457G>AMANE SELECT
  • NP_001182220.2:p.Gly157Ser
  • NP_001258751.1:p.Gly167Ser
  • NP_001258752.1:p.Gly172Ser
  • NP_001258752.1:p.Gly172Ser
  • NP_001258753.1:p.Gly153Ser
  • NP_001258754.1:p.Gly153Ser
  • NP_001284628.1:p.Gly153Ser
  • NP_001284629.1:p.Gly153Ser
  • NP_001361444.1:p.Gly157Ser
  • NP_001361445.1:p.Gly153Ser
  • NP_001361446.1:p.Gly109Ser
  • NP_004559.4:p.Gly153Ser
  • NP_004559.4:p.Gly153Ser
  • NC_000006.11:g.2953394C>T
  • NM_001195291.1:c.457G>A
  • NM_001271823.1:c.514G>A
  • NM_004568.5:c.457G>A
  • NR_164657.1:n.502G>A
  • c.457G>A
Protein change:
G109S
Links:
dbSNP: rs2295766
NCBI 1000 Genomes Browser:
rs2295766
Molecular consequence:
  • NM_001195291.3:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271822.2:c.499G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271823.2:c.514G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271824.2:c.457G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271825.2:c.457G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001297699.2:c.457G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001297700.2:c.457G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374515.1:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374516.1:c.457G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374517.1:c.325G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004568.6:c.457G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164657.1:n.502G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
11

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000060767Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Benign
(May 7, 2012) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1111not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine, SCV000060767.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided11not providednot providedclinical testing PubMed (1)

Description

Gly153Ser in Exon 06 of SERPINB6: This variant is not expected to have clinical significance because it has been identified in 5.0% (5/100) of chromosomes from a population in the dbSNP database (http://www.ncbi.nlm.nih.gov/projects/SNP; rs 2295766).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided11not provided11not provided

Last Updated: Aug 23, 2022