NM_004568.6(SERPINB6):c.3G>C (p.Met1Ile) AND Autosomal recessive nonsyndromic hearing loss 91

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 25, 2019
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:: RCV001783729.4

Allele description [Variation Report for NM_004568.6(SERPINB6):c.3G>C (p.Met1Ile)]

NM_004568.6(SERPINB6):c.3G>C (p.Met1Ile)

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.3G>C (p.Met1Ile)

HGVS:

NC_000006.12:g.2959330C>G
NG_027692.1:g.17836G>C
NM_001195291.3:c.15G>C
NM_001271822.2:c.45G>C
NM_001271823.2:c.60G>C
NM_001271824.2:c.3G>C
NM_001271825.2:c.3G>C
NM_001297699.2:c.3G>C
NM_001297700.2:c.3G>C
NM_001374515.1:c.15G>C
NM_001374516.1:c.3G>C
NM_001374517.1:c.34-3660G>C
NM_004568.6:c.3G>CMANE SELECT
NP_001182220.2:p.Met5Ile
NP_001258751.1:p.Met15Ile
NP_001258752.1:p.Met20Ile
NP_001258753.1:p.Met1Ile
NP_001258754.1:p.Met1Ile
NP_001284628.1:p.Met1Ile
NP_001284629.1:p.Met1Ile
NP_001361444.1:p.Met5Ile
NP_001361445.1:p.Met1Ile
NP_004559.4:p.Met1Ile
NC_000006.11:g.2959564C>G
NM_004568.5:c.3G>C
NR_164657.1:n.48G>C

Protein change:

M15I

Links:

dbSNP: rs1225963332

NCBI 1000 Genomes Browser:

rs1225963332

Molecular consequence:

NM_001271824.2:c.3G>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001271825.2:c.3G>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001297699.2:c.3G>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001297700.2:c.3G>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001374516.1:c.3G>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_004568.6:c.3G>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001374517.1:c.34-3660G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001195291.3:c.15G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001271822.2:c.45G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001271823.2:c.60G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001271824.2:c.3G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001271825.2:c.3G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001297699.2:c.3G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001297700.2:c.3G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374515.1:c.15G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374516.1:c.3G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004568.6:c.3G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_164657.1:n.48G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 91
Synonyms:: Deafness, autosomal recessive 91
Identifiers:: MONDO: MONDO:0013269; MedGen: C3150704; Orphanet: 90636; OMIM: 613453

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002019177	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 25, 2019)	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

SCV002019177

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 25, 2019)

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Revvity Omics, Revvity, SCV002019177.4

#	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: Mar 16, 2024

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