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NM_001393816.1(ADIG):c.115C>T (p.Leu39Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 23, 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:
RCV004304633.1

Allele description [Variation Report for NM_001393816.1(ADIG):c.115C>T (p.Leu39Phe)]

NM_001393816.1(ADIG):c.115C>T (p.Leu39Phe)

Gene:
ADIG:adipogenin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q11.23
Genomic location:
Preferred name:
NM_001393816.1(ADIG):c.115C>T (p.Leu39Phe)
HGVS:
  • NC_000020.11:g.38581365C>T
  • NM_001018082.1:c.115C>T
  • NM_001393816.1:c.115C>TMANE SELECT
  • NM_001393817.1:c.115C>T
  • NP_001380745.1:p.Leu39Phe
  • NP_001380746.1:p.Leu39Phe
  • NC_000020.10:g.37210008C>T
  • NR_172017.1:n.169C>T
Protein change:
L39F
Molecular consequence:
  • NM_001393816.1:c.115C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001393817.1:c.115C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_172017.1:n.169C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003965371Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 23, 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, SCV003965371.2

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

Description

The c.115C>T (p.L39F) alteration is located in exon 1 (coding exon 1) of the ADIG gene. This alteration results from a C to T substitution at nucleotide position 115, causing the leucine (L) at amino acid position 39 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: Nov 10, 2024