NM_018417.6(ADCY10):c.1307A>G (p.Asn436Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 21, 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:: RCV003030011.3

Allele description [Variation Report for NM_018417.6(ADCY10):c.1307A>G (p.Asn436Ser)]

NM_018417.6(ADCY10):c.1307A>G (p.Asn436Ser)

Genes:

DCAF6:DDB1 and CUL4 associated factor 6 [Gene - OMIM - HGNC]
ADCY10:adenylate cyclase 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q24.2

Genomic location:

Preferred name:

NM_018417.6(ADCY10):c.1307A>G (p.Asn436Ser)

HGVS:

NC_000001.11:g.167878545T>C
NG_016139.2:g.40589A>G
NG_053062.2:g.19971T>C
NM_001167749.3:c.848A>G
NM_001297772.2:c.1031A>G
NM_018417.6:c.1307A>GMANE SELECT
NP_001161221.1:p.Asn283Ser
NP_001284701.1:p.Asn344Ser
NP_060887.2:p.Asn436Ser
NC_000001.10:g.167847783T>C
NG_016139.1:g.40671A>G

Protein change:

N283S

Molecular consequence:

NM_001167749.3:c.848A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001297772.2:c.1031A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_018417.6:c.1307A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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hypothetical protein (mitochondrion) [Phytophthora sansomeana]
hypothetical protein (mitochondrion) [Phytophthora sansomeana]
gi|1770692520|ref|YP_009707678.1|

Protein
SRD5A2 steroid 5 alpha-reductase 2 [Homo sapiens]
SRD5A2 steroid 5 alpha-reductase 2 [Homo sapiens]
Gene ID:6716

Gene
mast cell protease 1-like 3 isoform X2 [Rattus norvegicus]
mast cell protease 1-like 3 isoform X2 [Rattus norvegicus]
gi|2678899884|ref|XP_063130584.1|

Protein
PREDICTED: Homo sapiens ZFP1 zinc finger protein (ZFP1), transcript variant X7, ...
PREDICTED: Homo sapiens ZFP1 zinc finger protein (ZFP1), transcript variant X7, mRNA
gi|2462547754|ref|XM_054379711.1|

Nucleotide
R.norvegicus L1 retroposon, ORF2 mRNA (partial)
R.norvegicus L1 retroposon, ORF2 mRNA (partial)
gi|56521|emb|X61295.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003331489	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 21, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003331489

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 21, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003331489.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 436 of the ADCY10 protein (p.Asn436Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ADCY10-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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