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NM_015474.4(SAMHD1):c.1321G>C (p.Ala441Pro) AND Aicardi Goutieres syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 25, 2020
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:
RCV001830512.1

Allele description [Variation Report for NM_015474.4(SAMHD1):c.1321G>C (p.Ala441Pro)]

NM_015474.4(SAMHD1):c.1321G>C (p.Ala441Pro)

Gene:
SAMHD1:SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q11.23
Genomic location:
Preferred name:
NM_015474.4(SAMHD1):c.1321G>C (p.Ala441Pro)
HGVS:
  • NC_000020.11:g.36905453C>G
  • NG_017059.1:g.51391G>C
  • NM_001363729.2:c.1321G>C
  • NM_001363733.2:c.1321G>C
  • NM_015474.4:c.1321G>CMANE SELECT
  • NP_001350658.1:p.Ala441Pro
  • NP_001350662.1:p.Ala441Pro
  • NP_056289.2:p.Ala441Pro
  • NP_056289.2:p.Ala441Pro
  • LRG_281t1:c.1321G>C
  • LRG_281:g.51391G>C
  • LRG_281p1:p.Ala441Pro
  • NC_000020.10:g.35533856C>G
  • NM_015474.3:c.1321G>C
Protein change:
A441P
Links:
dbSNP: rs1311797673
NCBI 1000 Genomes Browser:
rs1311797673
Molecular consequence:
  • NM_001363729.2:c.1321G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363733.2:c.1321G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015474.4:c.1321G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Aicardi Goutieres syndrome (AGS)
Synonyms:
Encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis
Identifiers:
MONDO: MONDO:0018866; MedGen: C0393591; OMIM: PS225750

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002090982Natera, Inc.
no assertion criteria provided
Uncertain significance
(Nov 25, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002090982.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024