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NM_000155.4(GALT):c.508-17G>A

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 10, 2020
Accession:
VCV000036148.5
Variation ID:
36148
Description:
single nucleotide variant
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NM_000155.4(GALT):c.508-17G>A

Allele ID
44812
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p13.3
Genomic location
9: 34648098 (GRCh38) GRCh38 UCSC
9: 34648095 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.34648095G>A
NC_000009.12:g.34648098G>A
NG_009029.2:g.6510G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:34648097:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.01278 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01399
1000 Genomes Project 0.01278
Trans-Omics for Precision Medicine (TOPMed) 0.01315
Links
ClinGen: CA260406
dbSNP: rs12000481
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Nov 10, 2020 RCV000029811.4
Benign 1 criteria provided, single submitter Nov 6, 2015 RCV000277594.1
Benign 1 no assertion criteria provided Sep 16, 2020 RCV001276269.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GALT - - GRCh38
GRCh37
445 520

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
benign
(Aug 18, 2011)
criteria provided, single submitter
Method: curation, clinical testing
Galactosemia
(autosomal unknown)
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000052466.1
Submitted: (Aug 18, 2011)
Evidence details
Comment:
Converted during submission to Benign.
Benign
(Nov 06, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000331123.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001160074.1
Submitted: (Aug 05, 2019)
Evidence details
Benign
(Nov 10, 2020)
criteria provided, single submitter
Method: clinical testing
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Allele origin: germline
Invitae
Accession: SCV001724839.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Galactosemia
Allele origin: germline
Natera, Inc.
Accession: SCV001462318.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GALT - - - -

Text-mined citations for rs12000481...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 11, 2021