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

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (3 submissions)
Last evaluated:: Dec 14, 2021
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:: RCV000948728.8

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]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000718872	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Jan 29, 2019)	germline	clinical testing	Citation Link,
SCV001094950	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Dec 14, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001145736	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Aug 31, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000718872

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Jan 29, 2019)

germline

clinical testing

Citation Link,

SCV001094950

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Dec 14, 2021)

germline

clinical testing

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

SCV001145736

Athena Diagnostics Inc

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Aug 31, 2018)

germline

clinical testing

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

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From GeneDx, SCV000718872.2

#	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 Invitae, SCV001094950.3

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

#	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 Athena Diagnostics Inc, SCV001145736.1

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

#	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: Dec 24, 2022

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