NM_000155.4(GALT):c.132del (p.Ser45fs) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 12, 2017
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:: RCV000671377.1

Allele description [Variation Report for NM_000155.4(GALT):c.132del (p.Ser45fs)]

NM_000155.4(GALT):c.132del (p.Ser45fs)

Genes:

LOC130001683:ATAC-STARR-seq lymphoblastoid active region 28314 [Gene]
GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9p13.3

Genomic location:

Preferred name:

NM_000155.4(GALT):c.132del (p.Ser45fs)

HGVS:

NC_000009.12:g.34647138del
NG_009029.2:g.5550del
NM_000155.4:c.132delMANE SELECT
NM_001258332.2:c.-71del
NP_000146.2:p.Ser45fs
NC_000009.11:g.34647135del
NM_000155.3:c.132delG

Protein change:

S45fs

Links:

dbSNP: rs1554709139

NCBI 1000 Genomes Browser:

rs1554709139

Molecular consequence:

NM_001258332.2:c.-71del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000155.4:c.132del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Synonyms:: GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY; Galactose-1-phosphate uridyltransferase deficiency; Transferase Deficiency Galactosemia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009258; MedGen: C0268151; Orphanet: 352; Orphanet: 79239; OMIM: 230400

Recent activity

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Carbonic anhydrase 3 [Mus musculus]
Carbonic anhydrase 3 [Mus musculus]
gi|15029812|gb|AAH11129.1|

Protein
LOC121436540 [Microtus oregoni]
LOC121436540 [Microtus oregoni]
Gene ID:121436540

Gene
FBN1 [Nanorana parkeri]
FBN1 [Nanorana parkeri]
Gene ID:108792195

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000796347	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Dec 12, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000796347

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Dec 12, 2017)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000796347.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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