NM_004304.5(ALK):c.1550A>G (p.His517Arg) AND Pituitary adenoma, familial isolated

Clinical significance:Uncertain significance (Last evaluated: Jun 4, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001526802.1

Allele description [Variation Report for NM_004304.5(ALK):c.1550A>G (p.His517Arg)]

NM_004304.5(ALK):c.1550A>G (p.His517Arg)

Gene:
ALK:ALK receptor tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.2
Genomic location:
Preferred name:
NM_004304.5(ALK):c.1550A>G (p.His517Arg)
HGVS:
  • NC_000002.12:g.29318401T>C
  • NG_009445.1:g.608166A>G
  • NM_004304.5:c.1550A>GMANE SELECT
  • NP_004295.2:p.His517Arg
  • LRG_488:g.608166A>G
  • NC_000002.11:g.29541267T>C
  • NM_004304.4:c.1550A>G
Protein change:
H517R
Links:
dbSNP: rs367674546
NCBI 1000 Genomes Browser:
rs367674546
Molecular consequence:
  • NM_004304.5:c.1550A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pituitary adenoma, familial isolated (FIPA)
Identifiers:
MONDO: MONDO:0017824; MedGen: C2676191; OMIM: PS102200

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001737428St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospitalcriteria provided, single submitter
Uncertain significance
(Jun 4, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital, SCV001737428.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The ALK c.1550A>G (p.His517Arg) missense change has a maximum subpopulation frequency of 0.04% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/2-29541267-T-C?dataset=gnomad_r2_1). Six of six in silico tools predict a benign effect of this variant on protein function (BP4), but to our knowledge these predictions have not been confirmed by functional assays. To our knowledge, this variant has not been reported in the literature in individuals with ALK-related neuroblastic tumor susceptibility. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: BP4.

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

Last Updated: Jun 23, 2021

Support Center