NM_007120.3(UGT1A4):c.751T>C (p.Tyr251His) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 20, 2023
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:: RCV004258084.1

Allele description [Variation Report for NM_007120.3(UGT1A4):c.751T>C (p.Tyr251His)]

NM_007120.3(UGT1A4):c.751T>C (p.Tyr251His)

Genes:

UGT1A:UDP glucuronosyltransferase family 1 member A complex locus [Gene - HGNC]
UGT1A10:UDP glucuronosyltransferase family 1 member A10 [Gene - OMIM - HGNC]
UGT1A4:UDP glucuronosyltransferase family 1 member A4 [Gene - OMIM - HGNC]
UGT1A5:UDP glucuronosyltransferase family 1 member A5 [Gene - OMIM - HGNC]
UGT1A6:UDP glucuronosyltransferase family 1 member A6 [Gene - OMIM - HGNC]
UGT1A7:UDP glucuronosyltransferase family 1 member A7 [Gene - OMIM - HGNC]
UGT1A8:UDP glucuronosyltransferase family 1 member A8 [Gene - OMIM - HGNC]
UGT1A9:UDP glucuronosyltransferase family 1 member A9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.1

Genomic location:

Preferred name:

NM_007120.3(UGT1A4):c.751T>C (p.Tyr251His)

HGVS:

NC_000002.12:g.233719571T>C
NG_002601.2:g.134828T>C
NM_001072.4:c.861+25706T>CMANE SELECT
NM_007120.3:c.751T>CMANE SELECT
NM_019075.4:c.856-47463T>CMANE SELECT
NM_019076.5:c.856-47463T>CMANE SELECT
NM_019077.3:c.855+36779T>CMANE SELECT
NM_019078.2:c.867+5713T>CMANE SELECT
NM_021027.3:c.855+46782T>CMANE SELECT
NM_205862.3:c.60+25706T>C
NP_009051.1:p.Tyr251His
NP_009051.1:p.Tyr251His
NC_000002.11:g.234628217T>C
NM_007120.2:c.751T>C

Protein change:

Y251H

Molecular consequence:

NM_001072.4:c.861+25706T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_019075.4:c.856-47463T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_019076.5:c.856-47463T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_019077.3:c.855+36779T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_019078.2:c.867+5713T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_021027.3:c.855+46782T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_205862.3:c.60+25706T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007120.3:c.751T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Brevundimonas terrae strain MSP15 16S ribosomal RNA gene, partial sequence
Brevundimonas terrae strain MSP15 16S ribosomal RNA gene, partial sequence
gi|1349059459|gb|MG984086.1|

Nucleotide
Frateuria aurantia strain MSP1b 16S ribosomal RNA gene, partial sequence
Frateuria aurantia strain MSP1b 16S ribosomal RNA gene, partial sequence
gi|1349059461|gb|MG984088.1|

Nucleotide
apoda.2 apolipoprotein Da, duplicate 2 [Danio rerio]
apoda.2 apolipoprotein Da, duplicate 2 [Danio rerio]
Gene ID:100148022

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003877445	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Jan 20, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003877445

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Jan 20, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003877445.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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