NM_078480.3(PUF60):c.530A>G (p.Tyr177Cys) AND 8q24.3 microdeletion syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 31, 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:: RCV003232889.1

Allele description [Variation Report for NM_078480.3(PUF60):c.530A>G (p.Tyr177Cys)]

NM_078480.3(PUF60):c.530A>G (p.Tyr177Cys)

Gene:

PUF60:poly(U) binding splicing factor 60 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_078480.3(PUF60):c.530A>G (p.Tyr177Cys)

HGVS:

NC_000008.11:g.143818266T>C
NG_030583.1:g.2114A>G
NG_030583.2:g.2507A>G
NG_033879.1:g.16121A>G
NM_001136033.3:c.401A>G
NM_001271096.2:c.476A>G
NM_001271097.2:c.392A>G
NM_001271098.2:c.527A>G
NM_001271099.2:c.443A>G
NM_001271100.2:c.350A>G
NM_001362895.2:c.641A>G
NM_001362896.2:c.641A>G
NM_001362897.2:c.590A>G
NM_014281.5:c.479A>G
NM_078480.3:c.530A>GMANE SELECT
NP_001129505.1:p.Tyr134Cys
NP_001258025.1:p.Tyr159Cys
NP_001258026.1:p.Tyr131Cys
NP_001258027.1:p.Tyr176Cys
NP_001258028.1:p.Tyr148Cys
NP_001258029.1:p.Tyr117Cys
NP_001349824.1:p.Tyr214Cys
NP_001349825.1:p.Tyr214Cys
NP_001349826.1:p.Tyr197Cys
NP_055096.2:p.Tyr160Cys
NP_510965.1:p.Tyr177Cys
NC_000008.10:g.144900436T>C

Protein change:

Y117C

Molecular consequence:

NM_001136033.3:c.401A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001271096.2:c.476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001271097.2:c.392A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001271098.2:c.527A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001271099.2:c.443A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001271100.2:c.350A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001362895.2:c.641A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001362896.2:c.641A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001362897.2:c.590A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_014281.5:c.479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_078480.3:c.530A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: 8q24.3 microdeletion syndrome
Synonyms:: CHROMOSOME 8q24.3 DELETION SYNDROME; Verheij syndrome
Identifiers:: MONDO: MONDO:0014263; MedGen: C3810023; OMIM: 615583

Recent activity

Clear Turn Off Turn On

The effect of co-culture on MMTV-HER2 early lesion or primary tumor cell and alv...
The effect of co-culture on MMTV-HER2 early lesion or primary tumor cell and alveolar macrophages [bulk RNA-seq]
The effect of co-culture on MMTV-HER2 early lesion or primary tumor cell and alveolar macrophages [bulk RNA-seq]

BioProject
Armillaria nabsnona strain IX SP84-15 actin-1 gene, partial cds
Armillaria nabsnona strain IX SP84-15 actin-1 gene, partial cds
gi|222542935|gb|FJ618615.1|

Nucleotide
Armillaria sinapina strain V48.5 actin-1 gene, partial cds
Armillaria sinapina strain V48.5 actin-1 gene, partial cds
gi|222542967|gb|FJ618632.1|

Nucleotide
Armillaria sparrei strain PSpa86.5 actin-1 gene, partial cds
Armillaria sparrei strain PSpa86.5 actin-1 gene, partial cds
gi|222542943|gb|FJ618619.1|

Nucleotide
Armillaria ostoyae strain PC88.22 actin-1 gene, partial cds
Armillaria ostoyae strain PC88.22 actin-1 gene, partial cds
gi|222542971|gb|FJ618634.1|

Nucleotide

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
SCV003929424	Institute of Human Genetics, Cologne University	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 31, 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

SCV003929424

Institute of Human Genetics, Cologne University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 31, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical 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

Details of each submission

From Institute of Human Genetics, Cologne University, SCV003929424.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 17, 2023

ClinVar

Relating variation to medicine