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NM_181523.3(PIK3R1):c.571C>T (p.Leu191=) AND multiple conditions

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 5, 2024
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:
RCV000534240.9

Allele description [Variation Report for NM_181523.3(PIK3R1):c.571C>T (p.Leu191=)]

NM_181523.3(PIK3R1):c.571C>T (p.Leu191=)

Gene:
PIK3R1:phosphoinositide-3-kinase regulatory subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q13.1
Genomic location:
Preferred name:
NM_181523.3(PIK3R1):c.571C>T (p.Leu191=)
HGVS:
  • NC_000005.10:g.68279670C>T
  • NG_012849.2:g.68915C>T
  • NM_181523.3:c.571C>TMANE SELECT
  • NP_852664.1:p.Leu191=
  • LRG_453t1:c.571C>T
  • LRG_453:g.68915C>T
  • LRG_453p1:p.Leu191=
  • NC_000005.9:g.67575498C>T
  • NM_181523.2:c.571C>T
Links:
dbSNP: rs533077843
NCBI 1000 Genomes Browser:
rs533077843
Molecular consequence:
  • NM_181523.3:c.571C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
SHORT syndrome
Synonyms:
SHORT STATURE, HYPEREXTENSIBILITY, HERNIA, OCULAR DEPRESSION, RIEGER ANOMALY, AND TEETHING DELAY; Stature, Hyperextensibility of joints or Hernia (inguinal), Ocular depression, Rieger anomaly and Teething delay; LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY AND SHORT STATURE
Identifiers:
MONDO: MONDO:0010026; MedGen: C0878684; Orphanet: 3163; OMIM: 269880
Name:
Agammaglobulinemia 7, autosomal recessive (AGM7)
Synonyms:
AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT
Identifiers:
MONDO: MONDO:0014083; MedGen: C3554689; OMIM: 615214
Name:
Immunodeficiency 36 (IMD36)
Synonyms:
IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION
Identifiers:
MONDO: MONDO:0014453; MedGen: C4014934; Orphanet: 397596; OMIM: 616005

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000636883Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Benign
(Jan 5, 2024) 		germlineclinical testing

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

Help

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, SCV000636883.7

#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: Mar 5, 2024