NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Oct 2, 2015
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:: RCV000725224.9

Allele description [Variation Report for NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr)]

NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr)

Gene:

ADSL:adenylosuccinate lyase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

Preferred name:

NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr)

Other names:

p.A431T:GCC>ACC

HGVS:

NC_000022.11:g.40364979G>A
NG_007993.2:g.23480G>A
NM_000026.4:c.1291G>AMANE SELECT
NM_001123378.3:c.1191+614G>A
NM_001317923.2:c.1099G>A
NM_001363840.3:c.1291G>A
NP_000017.1:p.Ala431Thr
NP_001304852.1:p.Ala367Thr
NP_001350769.1:p.Ala431Thr
NC_000022.10:g.40760983G>A
NM_000026.2:c.1291G>A
NR_134256.2:n.1381G>A

Protein change:

A367T

Links:

dbSNP: rs200814886

NCBI 1000 Genomes Browser:

rs200814886

Molecular consequence:

NM_001123378.3:c.1191+614G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000026.4:c.1291G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001317923.2:c.1099G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001363840.3:c.1291G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_134256.2:n.1381G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

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
SCV000240261	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jun 18, 2013)	germline	clinical testing	Citation Link,
SCV000335119	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Oct 2, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000240261

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jun 18, 2013)

germline

clinical testing

Citation Link,

SCV000335119

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Oct 2, 2015)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000240261.10

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

Description

p.Ala431Thr (GCC>ACC): c.1291 G>A in exon 12 of the ADSL gene (NM_000026.2) The Ala431Thr missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It is a non-conservative amino acid substitution as a non-polar Alanine residue is replaced with a polar Threonine residue. However, it alters a poorly conserved position in the ADSL protein and in related proteins. In silico analyses are not consistent in their prediction of whether or not Ala431Thr is damaging to the structure/function of the ADSL protein. Therefore, based on the currently available information, it is unclear whether Ala431Thr is a disease-causing mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).

#	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 Eurofins Ntd Llc (ga), SCV000335119.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine