NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 11, 2018
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:: RCV000151842.5

Allele description [Variation Report for NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile)]

NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile)

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.121G>A (p.Val41Ile)

HGVS:

NC_000006.12:g.2959212C>T
NG_027692.1:g.17954G>A
NM_001195291.3:c.133G>A
NM_001271822.2:c.163G>A
NM_001271823.2:c.178G>A
NM_001271824.2:c.121G>A
NM_001271825.2:c.121G>A
NM_001297699.2:c.121G>A
NM_001297700.2:c.121G>A
NM_001374515.1:c.133G>A
NM_001374516.1:c.121G>A
NM_001374517.1:c.34-3542G>A
NM_004568.6:c.121G>AMANE SELECT
NP_001182220.2:p.Val45Ile
NP_001258751.1:p.Val55Ile
NP_001258752.1:p.Val60Ile
NP_001258752.1:p.Val60Ile
NP_001258753.1:p.Val41Ile
NP_001258754.1:p.Val41Ile
NP_001284628.1:p.Val41Ile
NP_001284629.1:p.Val41Ile
NP_001361444.1:p.Val45Ile
NP_001361445.1:p.Val41Ile
NP_004559.4:p.Val41Ile
NP_004559.4:p.Val41Ile
NC_000006.11:g.2959446C>T
NM_001195291.1:c.121G>A
NM_001271823.1:c.178G>A
NM_004568.5:c.121G>A
NR_164657.1:n.166G>A
p.Val41Ile

Protein change:

V41I

Links:

dbSNP: rs140220538

Molecular consequence:

NM_001374517.1:c.34-3542G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001195291.3:c.133G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001271822.2:c.163G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001271823.2:c.178G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001271824.2:c.121G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001271825.2:c.121G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001297699.2:c.121G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001297700.2:c.121G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374515.1:c.133G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374516.1:c.121G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004568.6:c.121G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_164657.1:n.166G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000200318	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Apr 11, 2018)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20451170, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000200318

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Apr 11, 2018)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	2	2	not provided	not provided	not provided	clinical testing

Citations

PubMed

A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.

Sirmaci A, Erbek S, Price J, Huang M, Duman D, Cengiz FB, Bademci G, Tokgöz-Yilmaz S, Hişmi B, Ozdağ H, Oztürk B, Kulaksizoğlu S, Yildirim E, Kokotas H, Grigoriadou M, Petersen MB, Shahin H, Kanaan M, King MC, Chen ZY, Blanton SH, Liu XZ, et al.

Am J Hum Genet. 2010 May 14;86(5):797-804. doi: 10.1016/j.ajhg.2010.04.004. Epub 2010 May 6.

PubMed [citation]

PMID:: 20451170
PMCID:: PMC2869020

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, SCV000200318.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (2)

Description

p.Val41Ile in exon 2C of SERPINB6: This variant is classified as likely benign b ecause it has been identified in 0.3% (29/10152) of Ashkenazi Jewish chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; d bSNP rs140220538). ACMG/AMP Criteria applied: BS1

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		2	not provided	2	not provided

Last Updated: Mar 7, 2026

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