NM_000022.4(ADA):c.821C>T (p.Pro274Leu) AND Partial adenosine deaminase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 1990
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000002041.2

Allele description [Variation Report for NM_000022.4(ADA):c.821C>T (p.Pro274Leu)]

NM_000022.4(ADA):c.821C>T (p.Pro274Leu)

Gene:

ADA:adenosine deaminase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

Preferred name:

NM_000022.4(ADA):c.821C>T (p.Pro274Leu)

HGVS:

NC_000020.11:g.44622612G>A
NG_007385.1:g.34124C>T
NM_000022.4:c.821C>TMANE SELECT
NM_001322050.2:c.416C>T
NM_001322051.2:c.749C>T
NP_000013.2:p.Pro274Leu
NP_001308979.1:p.Pro139Leu
NP_001308980.1:p.Pro250Leu
LRG_16t1:c.821C>T
LRG_16:g.34124C>T
NC_000020.10:g.43251253G>A
NM_000022.2:c.821C>T
P00813:p.Pro274Leu

Protein change:

P139L; PRO274LEU

Links:

UniProtKB: P00813#VAR_002236; UniProtKB/Swiss-Prot: VAR_002236; OMIM: 608958.0012; dbSNP: rs121908738

NCBI 1000 Genomes Browser:

rs121908738

Molecular consequence:

NM_000022.4:c.821C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001322050.2:c.416C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001322051.2:c.749C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Partial adenosine deaminase deficiency
Synonyms:: PARTIAL ADA DEFICIENCY
Identifiers:: MedGen: C1863239

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022199	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 1990)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000022199

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 1990)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Hot spot mutations in adenosine deaminase deficiency.

Hirschhorn R, Tzall S, Ellenbogen A.

Proc Natl Acad Sci U S A. 1990 Aug;87(16):6171-5.

PubMed [citation]

PMID:: 2166947
PMCID:: PMC54494

Details of each submission

From OMIM, SCV000022199.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with partial ADA deficiency (102700), Hirschhorn et al. (1990) identified compound heterozygosity for 2 mutations in the ADA gene: an 821C-T transition in exon 9, resulting in a pro274-to-leu (P274L) substitution, and R76Y (608958.0010). The P274L mutant allele resulted in an abnormally basic protein with 12% normal activity in lymphoid cells.

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

Last Updated: Dec 24, 2023

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