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NM_004791.3(ITGBL1):c.1366G>A (p.Asp456Asn) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 29, 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:
RCV004344897.1

Allele description [Variation Report for NM_004791.3(ITGBL1):c.1366G>A (p.Asp456Asn)]

NM_004791.3(ITGBL1):c.1366G>A (p.Asp456Asn)

Genes:
FGF14:fibroblast growth factor 14 [Gene - OMIM - HGNC]
ITGBL1:integrin subunit beta like 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q33.1
Genomic location:
Preferred name:
NM_004791.3(ITGBL1):c.1366G>A (p.Asp456Asn)
HGVS:
  • NC_000013.11:g.101714524G>A
  • NG_008317.3:g.692919C>T
  • NM_001271754.2:c.943G>A
  • NM_001271755.2:c.1219G>A
  • NM_001271756.2:c.1087G>A
  • NM_001321938.2:c.*8307C>T
  • NM_001321939.2:c.*8307C>T
  • NM_001321941.2:c.*8307C>T
  • NM_001321945.2:c.*8307C>T
  • NM_001321946.2:c.*8307C>T
  • NM_001321947.2:c.*8307C>T
  • NM_001321948.2:c.*8307C>T
  • NM_001379342.1:c.*8307C>T
  • NM_004115.4:c.*8307C>TMANE SELECT
  • NM_004791.3:c.1366G>AMANE SELECT
  • NM_175929.3:c.*8307C>T
  • NP_001258683.1:p.Asp315Asn
  • NP_001258684.1:p.Asp407Asn
  • NP_001258685.1:p.Asp363Asn
  • NP_004782.1:p.Asp456Asn
  • NC_000013.10:g.102366874G>A
  • NM_004791.1:c.1366G>A
Protein change:
D315N
Molecular consequence:
  • NM_001321938.2:c.*8307C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001321939.2:c.*8307C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001321941.2:c.*8307C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001321945.2:c.*8307C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001321946.2:c.*8307C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001321947.2:c.*8307C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001321948.2:c.*8307C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001379342.1:c.*8307C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004115.4:c.*8307C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_175929.3:c.*8307C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001271754.2:c.943G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271755.2:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271756.2:c.1087G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004791.3:c.1366G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004075880Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 29, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004075880.2

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

Description

The c.1366G>A (p.D456N) alteration is located in exon 10 (coding exon 10) of the ITGBL1 gene. This alteration results from a G to A substitution at nucleotide position 1366, causing the aspartic acid (D) at amino acid position 456 to be replaced by an asparagine (N). 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: Oct 13, 2024