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NM_005982.4(SIX1):c.328C>G (p.Arg110Gly) AND Branchiootic syndrome 3

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 23, 2021
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:
RCV001837350.1

Allele description [Variation Report for NM_005982.4(SIX1):c.328C>G (p.Arg110Gly)]

NM_005982.4(SIX1):c.328C>G (p.Arg110Gly)

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.328C>G (p.Arg110Gly)
HGVS:
  • NC_000014.9:g.60648862G>C
  • NG_008231.1:g.5576C>G
  • NM_005982.4:c.328C>GMANE SELECT
  • NP_005973.1:p.Arg110Gly
  • NC_000014.8:g.61115580G>C
  • NM_005982.3:c.328C>G
Protein change:
R110G
Links:
dbSNP: rs80356459
NCBI 1000 Genomes Browser:
rs80356459
Molecular consequence:
  • NM_005982.4:c.328C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002097900New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Feb 23, 2021) 		inheritedclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002097900.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The inherited c.328C>G, p.Arg110Gly missense variant identified in the SIX1 gene has been reported in the literature in a patient with Brachio-oto-renal syndrome [PMID: 24901346]. This variant is absent in the gnomAD v3.1database, indicating this is a rare allele. In silico analysis predicts deleterious effect [PMID:27268795]and the position is strongly conserved (GERP++ = 5.64). Based on the available evidence, the missense variant c.328C>G, p.Arg110Gly in the SIX1 gene is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023