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NM_004970.3(IGFALS):c.1465G>T (p.Val489Phe) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 16, 2023
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:
RCV003251541.2

Allele description [Variation Report for NM_004970.3(IGFALS):c.1465G>T (p.Val489Phe)]

NM_004970.3(IGFALS):c.1465G>T (p.Val489Phe)

Gene:
IGFALS:insulin like growth factor binding protein acid labile subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_004970.3(IGFALS):c.1465G>T (p.Val489Phe)
HGVS:
  • NC_000016.10:g.1790953C>A
  • NG_011778.1:g.7781G>T
  • NM_001146006.2:c.1579G>T
  • NM_004970.3:c.1465G>TMANE SELECT
  • NP_001139478.1:p.Val527Phe
  • NP_004961.1:p.Val489Phe
  • NC_000016.9:g.1840954C>A
  • NM_004970.2:c.1465G>T
  • NR_027389.1:n.1519G>T
Protein change:
V489F
Molecular consequence:
  • NM_001146006.2:c.1579G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004970.3:c.1465G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027389.1:n.1519G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003937156Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 16, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003937156.2

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

Description

The c.1465G>T (p.V489F) alteration is located in exon 2 (coding exon 2) of the IGFALS gene. This alteration results from a G to T substitution at nucleotide position 1465, causing the valine (V) at amino acid position 489 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024