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NM_001282531.3(ADNP):c.3172T>C (p.Ser1058Pro) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 14, 2022
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:
RCV002901257.2

Allele description [Variation Report for NM_001282531.3(ADNP):c.3172T>C (p.Ser1058Pro)]

NM_001282531.3(ADNP):c.3172T>C (p.Ser1058Pro)

Gene:
ADNP:activity dependent neuroprotector homeobox [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.13
Genomic location:
Preferred name:
NM_001282531.3(ADNP):c.3172T>C (p.Ser1058Pro)
HGVS:
  • NC_000020.11:g.50891542A>G
  • NG_034200.1:g.44449T>C
  • NG_034200.2:g.44895T>C
  • NM_001282531.3:c.3172T>CMANE SELECT
  • NM_001282532.2:c.3172T>C
  • NM_001347511.2:c.3172T>C
  • NM_015339.5:c.3172T>C
  • NM_181442.4:c.3172T>C
  • NP_001269460.1:p.Ser1058Pro
  • NP_001269461.1:p.Ser1058Pro
  • NP_001334440.1:p.Ser1058Pro
  • NP_056154.1:p.Ser1058Pro
  • NP_852107.1:p.Ser1058Pro
  • NC_000020.10:g.49508079A>G
  • NM_015339.2:c.3172T>C
Protein change:
S1058P
Molecular consequence:
  • NM_001282531.3:c.3172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282532.2:c.3172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347511.2:c.3172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015339.5:c.3172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181442.4:c.3172T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003641550Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 14, 2022) 		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, SCV003641550.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024