NM_138927.4(SON):c.5753_5756del (p.Val1918fs) AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 13, 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:: RCV002252062.4

Allele description [Variation Report for NM_138927.4(SON):c.5753_5756del (p.Val1918fs)]

NM_138927.4(SON):c.5753_5756del (p.Val1918fs)

Gene:

SON:SON DNA and RNA binding protein [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

21q22.11

Genomic location:

Preferred name:

NM_138927.4(SON):c.5753_5756del (p.Val1918fs)

Other names:

p.V1918Efs*87; NM_138927.4(SON):c.5753_5756del; p.Val1918fs

HGVS:

NC_000021.9:g.33554984_33554987del
NG_052981.1:g.16947_16950del
NM_001291411.2:c.5753_5756del
NM_001291412.3:c.245-2172_245-2169del
NM_032195.3:c.5753_5756del
NM_138927.4:c.5753_5756delMANE SELECT
NP_001278340.2:p.Val1918fs
NP_115571.3:p.Val1918fs
NP_620305.3:p.Val1918fs
NC_000021.8:g.34927288_34927291del
NC_000021.8:g.34927290_34927293del
NM_032195.2:c.5753_5756del
NM_032195.2:c.5753_5756delTTAG
NM_138927.1:c.5753_5756delTTAG
NM_138927.2:c.5751_5754delAGTT
NM_138927.2:c.5753_5756delTTAG
NM_138927.3:c.5753_5756del
NM_138927.4:c.5751_5754delMANE SELECT
NM_138927.4:c.5753_5756del
NR_103797.2:n.5808_5811del

Protein change:

V1918fs

Links:

OMIM: 182465.0001; dbSNP: rs886039773

NCBI 1000 Genomes Browser:

rs886039773

Molecular consequence:

NM_001291411.2:c.5753_5756del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_032195.3:c.5753_5756del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_138927.4:c.5753_5756del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001291412.3:c.245-2172_245-2169del - intron variant - [Sequence Ontology: SO:0001627]
NR_103797.2:n.5808_5811del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002523222	Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 13, 2019)	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

SCV002523222

Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 13, 2019)

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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002523222.1

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

Description

ACMG classification criteria: PVS1, PS4, PM2, PM6

#	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: Oct 8, 2024

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