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NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 16, 2022
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:
RCV002516223.2

Allele description [Variation Report for NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)]

NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)

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.1342T>C (p.Ser448Pro)
HGVS:
  • NC_000022.11:g.40365030T>C
  • NG_007993.2:g.23531T>C
  • NM_000026.3:c.1342T>C
  • NM_000026.4:c.1342T>CMANE SELECT
  • NM_001123378.3:c.1191+665T>C
  • NM_001317923.2:c.1150T>C
  • NM_001363840.3:c.1342T>C
  • NP_000017.1:p.Ser448Pro
  • NP_001304852.1:p.Ser384Pro
  • NP_001350769.1:p.Ser448Pro
  • NC_000022.10:g.40761034T>C
  • NM_000026.2:c.1342T>C
  • NR_134256.2:n.1432T>C
Protein change:
S384P
Links:
dbSNP: rs771121666
NCBI 1000 Genomes Browser:
rs771121666
Molecular consequence:
  • NM_001123378.3:c.1191+665T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000026.4:c.1342T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317923.2:c.1150T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363840.3:c.1342T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134256.2:n.1432T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003551929Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 16, 2022) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Adenylosuccinate lyase deficiency.

Spiegel EK, Colman RF, Patterson D.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):19-31. Epub 2006 Jul 12. Review.

PubMed [citation]
PMID:
16839792

The genetic landscape of infantile spasms.

Michaud JL, Lachance M, Hamdan FF, Carmant L, Lortie A, Diadori P, Major P, Meijer IA, Lemyre E, Cossette P, Mefford HC, Rouleau GA, Rossignol E.

Hum Mol Genet. 2014 Sep 15;23(18):4846-58. doi: 10.1093/hmg/ddu199. Epub 2014 Apr 29.

PubMed [citation]
PMID:
24781210

Details of each submission

From Ambry Genetics, SCV003551929.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The c.1342T>C (p.S448P) alteration is located in exon 12 (coding exon 12) of the ADSL gene. This alteration results from a T to C substitution at nucleotide position 1342, causing the serine (S) at amino acid position 448 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024