NM_005982.4(SIX1):c.501G>C (p.Gln167His) AND Branchiootic syndrome 3

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 5, 2023
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:: RCV003229629.1

Allele description [Variation Report for NM_005982.4(SIX1):c.501G>C (p.Gln167His)]

NM_005982.4(SIX1):c.501G>C (p.Gln167His)

Genes:

SIX1:SIX homeobox 1 [Gene - OMIM - HGNC]
MIR9718:microRNA 9718 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q23.1

Genomic location:

Preferred name:

NM_005982.4(SIX1):c.501G>C (p.Gln167His)

HGVS:

NC_000014.9:g.60648689C>G
NG_008231.1:g.5749G>C
NM_005982.4:c.501G>CMANE SELECT
NP_005973.1:p.Gln167His
NC_000014.8:g.61115407C>G
NR_162089.1:n.42C>G

Protein change:

Q167H

Links:

dbSNP: rs2140241012

NCBI 1000 Genomes Browser:

rs2140241012

Molecular consequence:

NM_005982.4:c.501G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_162089.1:n.42C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Branchiootic syndrome 3 (BOS3)
Synonyms:: BO SYNDROME 3
Identifiers:: MONDO: MONDO:0012025; MedGen: C1842124; OMIM: 608389

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003927058	Laboratory of Otorhinolaryngology, Head and Neck Surgery, Seoul National University Hospital	criteria provided, single submitter (ACMG AMP Guidelines)	Likely pathogenic (May 5, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003927058

Laboratory of Otorhinolaryngology, Head and Neck Surgery, Seoul National University Hospital

criteria provided, single submitter

(ACMG AMP Guidelines)

Likely pathogenic
(May 5, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Laboratory of Otorhinolaryngology, Head and Neck Surgery, Seoul National University Hospital, SCV003927058.1

#	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

Last Updated: Dec 24, 2023

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