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NM_006623.4(PHGDH):c.1209+149A>T AND Neu-Laxova syndrome 1

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 8, 2021
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:
RCV001537649.2

Allele description [Variation Report for NM_006623.4(PHGDH):c.1209+149A>T]

NM_006623.4(PHGDH):c.1209+149A>T

Gene:
PHGDH:phosphoglycerate dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p12
Genomic location:
Preferred name:
NM_006623.4(PHGDH):c.1209+149A>T
HGVS:
  • NC_000001.11:g.119742046A>T
  • NG_009188.1:g.35251A>T
  • NM_006623.4:c.1209+149A>TMANE SELECT
  • NC_000001.10:g.120284669A>T
  • NM_006623.3:c.1209+149A>T
Links:
dbSNP: rs627070
NCBI 1000 Genomes Browser:
rs627070
Molecular consequence:
  • NM_006623.4:c.1209+149A>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Neu-Laxova syndrome 1 (NLS1)
Identifiers:
MONDO: MONDO:0009736; MedGen: C4551478; Orphanet: 2671; OMIM: 256520

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001754576Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 8, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV001754576.1

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

Last Updated: Dec 24, 2023