NM_005982.4(SIX1):c.373G>A (p.Glu125Lys) AND Branchiootic syndrome 3

Germline classification:: Likely pathogenic (2 submissions)
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:: RCV002478668.3

Allele description [Variation Report for NM_005982.4(SIX1):c.373G>A (p.Glu125Lys)]

NM_005982.4(SIX1):c.373G>A (p.Glu125Lys)

Gene:

SIX1:SIX homeobox 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q23.1

Genomic location:

Preferred name:

NM_005982.4(SIX1):c.373G>A (p.Glu125Lys)

HGVS:

NC_000014.9:g.60648817C>T
NG_008231.1:g.5621G>A
NG_129185.1:g.777C>T
NG_129186.1:g.155C>T
NM_005982.4:c.373G>AMANE SELECT
NP_005973.1:p.Glu125Lys
NC_000014.8:g.61115535C>T
NM_005982.3:c.373G>A

Protein change:

E125K; GLU125LYS

Links:

OMIM: 601205.0005; dbSNP: rs797044960

NCBI 1000 Genomes Browser:

rs797044960

Molecular consequence:

NM_005982.4:c.373G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002775064	GeneReviews	no classification provided	not provided	germline	literature only
SCV003927056	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	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002775064

GeneReviews

no classification provided

not provided

germline

literature only

SCV003927056

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

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

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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans.

Mosrati MA, Hammami B, Rebeh IB, Ayadi L, Dhouib L, Ben Mahfoudh K, Hakim B, Charfeddine I, Mnif J, Ghorbel A, Masmoudi S.

Eur J Med Genet. 2011 Sep-Oct;54(5):e484-8. doi: 10.1016/j.ejmg.2011.06.001. Epub 2011 Jun 15.

PubMed [citation]

PMID:: 21700001

Details of each submission

From GeneReviews, SCV002775064.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	not provided

#	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 Laboratory of Otorhinolaryngology, Head and Neck Surgery, Seoul National University Hospital, SCV003927056.2

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

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