NM_058179.4(PSAT1):c.367A>G (p.Ile123Val) AND Neu-laxova syndrome 2

Clinical significance:Likely benign (Last evaluated: Nov 21, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000652405.4

Allele description [Variation Report for NM_058179.4(PSAT1):c.367A>G (p.Ile123Val)]

NM_058179.4(PSAT1):c.367A>G (p.Ile123Val)

Gene:
PSAT1:phosphoserine aminotransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q21.2
Genomic location:
Preferred name:
NM_058179.4(PSAT1):c.367A>G (p.Ile123Val)
HGVS:
  • NC_000009.12:g.78304910A>G
  • NG_012165.1:g.12768A>G
  • NM_021154.5:c.367A>G
  • NM_058179.4:c.367A>GMANE SELECT
  • NP_066977.1:p.Ile123Val
  • NP_478059.1:p.Ile123Val
  • NC_000009.11:g.80919826A>G
  • NM_058179.3:c.367A>G
Protein change:
I123V
Links:
dbSNP: rs116577685
NCBI 1000 Genomes Browser:
rs116577685
Molecular consequence:
  • NM_021154.5:c.367A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058179.4:c.367A>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
  • functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)
  • mutation affecting coding sequence [Sequence Ontology: SO:1000054] - Comment(s)

Condition(s)

Name:
Neu-laxova syndrome 2 (NLS2)
Identifiers:
MONDO: MONDO:0014466; MedGen: C4015019; Orphanet: 2671; OMIM: 616038

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000774275Invitaecriteria provided, single submitter
Likely benign
(Nov 21, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000774275.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 23, 2021

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