NM_005413.4(SIX3):c.109G>T (p.Gly37Cys) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 31, 2015
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:: RCV000173372.8

Allele description [Variation Report for NM_005413.4(SIX3):c.109G>T (p.Gly37Cys)]

NM_005413.4(SIX3):c.109G>T (p.Gly37Cys)

Gene:

SIX3:SIX homeobox 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_005413.4(SIX3):c.109G>T (p.Gly37Cys)

HGVS:

NC_000002.12:g.44942213G>T
NG_016222.1:g.5316G>T
NM_005413.4:c.109G>TMANE SELECT
NP_005404.1:p.Gly37Cys
NC_000002.11:g.45169352G>T
NM_005413.3:c.109G>T
O95343:p.Gly37Cys

Protein change:

G37C; GLY37CYS

Links:

UniProtKB: O95343#VAR_071335; OMIM: 603714.0009; dbSNP: rs199823175

NCBI 1000 Genomes Browser:

rs199823175

Molecular consequence:

NM_005413.4:c.109G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000224476	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely benign (Mar 31, 2015)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 18791198, 19346217, 20157829 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000224476

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely benign
(Mar 31, 2015)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in the human SIX3 gene in holoprosencephaly are loss of function.

Domené S, Roessler E, El-Jaick KB, Snir M, Brown JL, Vélez JI, Bale S, Lacbawan F, Muenke M, Feldman B.

Hum Mol Genet. 2008 Dec 15;17(24):3919-28. doi: 10.1093/hmg/ddn294. Epub 2008 Sep 12.

PubMed [citation]

PMID:: 18791198
PMCID:: PMC2733808

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Vanallen MI, et al.

J Med Genet. 2009 Jun;46(6):389-98. doi: 10.1136/jmg.2008.063818. Epub 2009 Apr 2.

PubMed [citation]

PMID:: 19346217
PMCID:: PMC3510661

See all PubMed Citations (3)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000224476.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

#	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		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

ClinVar

Relating variation to medicine