NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (4 submissions)
Last evaluated:: Jul 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001558568.18

Allele description [Variation Report for NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)]

NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)

Gene:

SLC2A10:solute carrier family 2 member 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

Preferred name:

NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)

HGVS:

NC_000020.11:g.46725430C>T
NG_016284.1:g.20791C>T
NM_030777.4:c.394C>TMANE SELECT
NP_110404.1:p.Arg132Trp
NP_110404.1:p.Arg132Trp
NC_000020.10:g.45354069C>T
NM_030777.3:c.394C>T
O95528:p.Arg132Trp

Protein change:

R132W; ARG132TRP

Links:

UniProtKB: O95528#VAR_042417; OMIM: 606145.0006; dbSNP: rs121908173

NCBI 1000 Genomes Browser:

rs121908173

Molecular consequence:

NM_030777.4:c.394C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

zinc ion binding protein [Arabidopsis thaliana]
zinc ion binding protein [Arabidopsis thaliana]
gi|30698155|ref|NP_201375.2|

Protein
Osteoglossocephalai zic family member 1 (zic1) gene, partial cds.
Osteoglossocephalai zic family member 1 (zic1) gene, partial cds.
PopSet: 183240828

PopSet
TSA: Tetralonia malvae C51566_a_4_0_l_289 transcribed RNA sequence
TSA: Tetralonia malvae C51566_a_4_0_l_289 transcribed RNA sequence
gi|1163985793|gb|GBNI01008520.1||gn :GBNI01|C51566_a_4_0_l_289

Nucleotide
TSA: Tetralonia malvae C51548_a_3_0_l_289 transcribed RNA sequence
TSA: Tetralonia malvae C51548_a_3_0_l_289 transcribed RNA sequence
gi|1163985799|gb|GBNI01008514.1||gn :GBNI01|C51548_a_3_0_l_289

Nucleotide
TSA: Tetralonia malvae C51418_a_10_0_l_288 transcribed RNA sequence
TSA: Tetralonia malvae C51418_a_10_0_l_288 transcribed RNA sequence
gi|1163985844|gb|GBNI01008469.1||gn :GBNI01|C51418_a_10_0_l_288

Nucleotide

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
SCV001780546	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (May 20, 2021)	germline	clinical testing	Citation Link,
SCV002502030	AiLife Diagnostics, AiLife Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 17, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 17935213, 28726533, 29543232, 25741868
SCV005041718	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Jul 1, 2024)	germline	clinical testing	Citation Link,
SCV005198271	Clinical Genetics Laboratory, Skane University Hospital Lund	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 27, 2022)	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	yes	3	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, Ramos-Arroyo MA, Doco-Fenzy M, Hennekam RC, Pyeritz RE, Krogmann ON, Gillessen-kaesbach G, Wakeling EL, Nik-zainal S, Francannet C, Mauran P, Booth C, Barrow M, Dekens R, Loeys BL, Coucke PJ, De Paepe AM.

Hum Mutat. 2008 Jan;29(1):150-8.

PubMed [citation]

PMID:: 17935213

Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series.

Hardin JS, Zarate YA, Callewaert B, Phillips PH, Warner DB.

Ophthalmic Genet. 2018 Jan-Feb;39(1):29-34. doi: 10.1080/13816810.2017.1335332. Epub 2017 Jul 20.

PubMed [citation]

PMID:: 28726533

See all PubMed Citations (4)

Details of each submission

From GeneDx, SCV001780546.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in ClinVar (ClinVar Variant ID# 4590; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 29543232, 17935213, 28726533, 25392904)

#	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

From AiLife Diagnostics, AiLife Diagnostics, SCV002502030.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)

#	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		1	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV005041718.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

Description

SLC2A10: PM3:Very Strong, PM2, PM5:Supporting

#	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		2	not provided	not provided	not provided

From Clinical Genetics Laboratory, Skane University Hospital Lund, SCV005198271.1

#	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: Oct 20, 2024

ClinVar

Relating variation to medicine