U.S. flag

An official website of the United States government

NM_016824.5(ADD3):c.995A>G (p.Asn332Ser) AND Cerebral palsy, spastic quadriplegic, 3

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jan 11, 2019
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:
RCV001328970.3

Allele description [Variation Report for NM_016824.5(ADD3):c.995A>G (p.Asn332Ser)]

NM_016824.5(ADD3):c.995A>G (p.Asn332Ser)

Gene:
ADD3:adducin 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q25.2
Genomic location:
Preferred name:
NM_016824.5(ADD3):c.995A>G (p.Asn332Ser)
HGVS:
  • NC_000010.11:g.110122144A>G
  • NG_051033.1:g.130795A>G
  • NM_001121.4:c.995A>G
  • NM_001320591.2:c.995A>G
  • NM_001320592.2:c.995A>G
  • NM_001320593.2:c.995A>G
  • NM_001320594.2:c.761A>G
  • NM_016824.5:c.995A>GMANE SELECT
  • NM_019903.5:c.995A>G
  • NP_001112.2:p.Asn332Ser
  • NP_001307520.1:p.Asn332Ser
  • NP_001307521.1:p.Asn332Ser
  • NP_001307522.1:p.Asn332Ser
  • NP_001307523.1:p.Asn254Ser
  • NP_058432.1:p.Asn332Ser
  • NP_063968.1:p.Asn332Ser
  • NC_000010.10:g.111881902A>G
  • NM_016824.3:c.995A>G
  • NM_016824.4:c.995A>G
Protein change:
N254S; ASN332SER
Links:
OMIM: 601568.0003; dbSNP: rs41291894
NCBI 1000 Genomes Browser:
rs41291894
Molecular consequence:
  • NM_001121.4:c.995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320591.2:c.995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320592.2:c.995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320593.2:c.995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320594.2:c.761A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016824.5:c.995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019903.5:c.995A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cerebral palsy, spastic quadriplegic, 3 (CPSQ3)
Identifiers:
MONDO: MONDO:0014862; MedGen: C4310767; Orphanet: 210141; OMIM: 617008

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001520240Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 11, 2019) 		paternalclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004565372OMIM
no assertion criteria provided
Pathogenic
(Feb 15, 2024) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedpaternalyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

Gonçalves S, Patat J, Guida MC, Lachaussée N, Arrondel C, Helmstädter M, Boyer O, Gribouval O, Gubler MC, Mollet G, Rio M, Charbit M, Bole-Feysot C, Nitschke P, Huber TB, Wheeler PG, Haynes D, Juusola J, Billette de Villemeur T, Nava C, Afenjar A, Keren B, et al.

PLoS Genet. 2018 May;14(5):e1007386. doi: 10.1371/journal.pgen.1007386. Erratum in: PLoS Genet. 2018 Oct 26;14(10):e1007748. doi: 10.1371/journal.pgen.1007748.

PubMed [citation]
PMID:
29768408
PMCID:
PMC5973622

Details of each submission

From Baylor Genetics, SCV001520240.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

From OMIM, SCV004565372.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient (family C) with spastic quadriplegic cerebral palsy-3 (CPSQ3; 617008), Goncalves et al. (2018) identified homozygosity for a c.995A-G transition (c.995A-G, NM_016824.4) in the ADD3 gene, resulting in an asn332-to-ser (N332S) substitution. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. The N332S variant was present in the gnomAD database at an allele frequency of 176/276,966.

In another patient with CPSQ3 (family B), Goncalves et al. (2018) identified the N332S mutation in compound heterozygous state; see 601568.0002.

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

Last Updated: Sep 29, 2024