NM_003719.5(PDE8B):c.2263G>A (p.Asp755Asn) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (2 submissions)
Last evaluated:: Aug 5, 2023
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:: RCV000899495.16

Allele description

NM_003719.5(PDE8B):c.2263G>A (p.Asp755Asn)

Gene:

PDE8B:phosphodiesterase 8B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q13.3

Genomic location:

Preferred name:

NM_003719.5(PDE8B):c.2263G>A (p.Asp755Asn)

HGVS:

NC_000005.10:g.77421833G>A
NG_023364.2:g.246582G>A
NM_001029851.4:c.1972G>A
NM_001029852.4:c.2098G>A
NM_001029853.4:c.2203G>A
NM_001029854.4:c.2122G>A
NM_001349748.3:c.2260G>A
NM_001349749.3:c.2326G>A
NM_001349750.3:c.2023G>A
NM_001349751.3:c.2260G>A
NM_001349752.3:c.1957G>A
NM_001349753.2:c.1891G>A
NM_001376062.1:c.1960G>A
NM_001376063.1:c.2254G>A
NM_001376064.1:c.2113G>A
NM_001376065.1:c.1969G>A
NM_001376066.1:c.1900G>A
NM_001376067.1:c.1891G>A
NM_001376068.1:c.1891G>A
NM_001376069.1:c.1879G>A
NM_001376070.1:c.1819G>A
NM_001376071.1:c.1816G>A
NM_001376072.1:c.1960G>A
NM_001376073.1:c.1669G>A
NM_001376074.1:c.1609G>A
NM_001376075.1:c.1600G>A
NM_003719.5:c.2263G>AMANE SELECT
NP_001025022.1:p.Asp658Asn
NP_001025023.1:p.Asp700Asn
NP_001025024.1:p.Asp735Asn
NP_001025025.1:p.Asp708Asn
NP_001336677.1:p.Asp754Asn
NP_001336678.1:p.Asp776Asn
NP_001336679.1:p.Asp675Asn
NP_001336680.1:p.Asp754Asn
NP_001336681.1:p.Asp653Asn
NP_001336682.1:p.Asp631Asn
NP_001362991.1:p.Asp654Asn
NP_001362992.1:p.Asp752Asn
NP_001362993.1:p.Asp705Asn
NP_001362994.1:p.Asp657Asn
NP_001362995.1:p.Asp634Asn
NP_001362996.1:p.Asp631Asn
NP_001362997.1:p.Asp631Asn
NP_001362998.1:p.Asp627Asn
NP_001362999.1:p.Asp607Asn
NP_001363000.1:p.Asp606Asn
NP_001363001.1:p.Asp654Asn
NP_001363002.1:p.Asp557Asn
NP_001363003.1:p.Asp537Asn
NP_001363004.1:p.Asp534Asn
NP_003710.1:p.Asp755Asn
NC_000005.9:g.76717658G>A
NM_003719.3:c.2263G>A

Protein change:

D534N

Links:

dbSNP: rs116027371

NCBI 1000 Genomes Browser:

rs116027371

Molecular consequence:

NM_001029851.4:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001029852.4:c.2098G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001029853.4:c.2203G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001029854.4:c.2122G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349748.3:c.2260G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349749.3:c.2326G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349750.3:c.2023G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349751.3:c.2260G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349752.3:c.1957G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349753.2:c.1891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001376062.1:c.1960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001376063.1:c.2254G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001376064.1:c.2113G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001376065.1:c.1969G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001376066.1:c.1900G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001376067.1:c.1891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001376068.1:c.1891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001376069.1:c.1879G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001376070.1:c.1819G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001376071.1:c.1816G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001376072.1:c.1960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001376073.1:c.1669G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001376074.1:c.1609G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001376075.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003719.5:c.2263G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Rho-type GTPase-activating protein 21 [Macaca mulatta]
Rho-type GTPase-activating protein 21 [Macaca mulatta]
gi|355562346|gb|EHH18940.1||gnl|WGS |EGK_19525

Protein
Zebrafish DNA sequence from clone CH211-225L7 in linkage group 7, complete seque...
Zebrafish DNA sequence from clone CH211-225L7 in linkage group 7, complete sequence
gi|63851260|emb|BX248243.23|

Nucleotide
GEO Profile Links for OMIM (Select 620031) (4875)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001043770	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Aug 5, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004162995	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Aug 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001043770

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Aug 5, 2023)

germline

clinical testing

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

SCV004162995

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Benign
(Aug 1, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
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 Invitae, SCV001043770.6

#	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 CeGaT Center for Human Genetics Tuebingen, SCV004162995.8

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

Description

PDE8B: BP4, BS1, BS2

#	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		1	not provided	not provided	not provided

Last Updated: Aug 4, 2024

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