NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly) AND not provided

Germline classification:: Benign (4 submissions)
Last evaluated:: Feb 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000991519.7

Allele description [Variation Report for NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly)]

NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly)

Gene:

ANO10:anoctamin 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.1

Genomic location:

Preferred name:

NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly)

HGVS:

NC_000003.12:g.43576788T>C
NG_028216.2:g.119807A>G
NM_001204831.3:c.1066A>G
NM_001204832.3:c.868A>G
NM_001204833.3:c.733A>G
NM_001204834.3:c.593-1924A>G
NM_001346463.2:c.1066A>G
NM_001346464.2:c.1066A>G
NM_001346465.2:c.1066A>G
NM_001346466.2:c.868A>G
NM_001346467.2:c.1066A>G
NM_001346468.2:c.1066A>G
NM_001346469.2:c.868A>G
NM_018075.5:c.1066A>GMANE SELECT
NP_001191760.1:p.Ser356Gly
NP_001191761.1:p.Ser290Gly
NP_001191762.1:p.Ser245Gly
NP_001333392.1:p.Ser356Gly
NP_001333393.1:p.Ser356Gly
NP_001333394.1:p.Ser356Gly
NP_001333395.1:p.Ser290Gly
NP_001333396.1:p.Ser356Gly
NP_001333397.1:p.Ser356Gly
NP_001333398.1:p.Ser290Gly
NP_060545.3:p.Ser356Gly
NC_000003.11:g.43618280T>C
NM_001204831.1:c.1066A>G
NM_018075.3:c.1066A>G

Protein change:

S245G

Links:

dbSNP: rs56389778

NCBI 1000 Genomes Browser:

rs56389778

Molecular consequence:

NM_001204834.3:c.593-1924A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001204831.3:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001204832.3:c.868A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001204833.3:c.733A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001346463.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001346464.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001346465.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001346466.2:c.868A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001346467.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001346468.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001346469.2:c.868A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_018075.5:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

POU domain, class 2, transcription factor 2 isoform 6 [Mus musculus]
POU domain, class 2, transcription factor 2 isoform 6 [Mus musculus]
gi|2449946112|ref|NP_001404063.1|

Protein
Trichoplusia ni isolate:ovarian cell line Hi5
Trichoplusia ni isolate:ovarian cell line Hi5
Trichoplusia ni isolate:ovarian cell line Hi5 Genome sequencing and assembly

BioProject
rxrbb [Oreochromis niloticus]
rxrbb [Oreochromis niloticus]
Gene ID:100711502

Gene
ENSONIG00000002873 AND (alive[prop]) (1)
Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001143010	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Jul 23, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001882987	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (May 4, 2021)	germline	clinical testing	Citation Link,
SCV004424380	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 1, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005241113	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	not provided	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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing, not provided

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

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

See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics, SCV001143010.1

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

#	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

From GeneDx, SCV001882987.1

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

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004424380.1

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

#	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

From Breakthrough Genomics, Breakthrough Genomics, SCV005241113.1

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

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine