NM_133433.4(NIPBL):c.310C>G (p.Pro104Ala) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 26, 2017
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:: RCV002318083.9

Allele description [Variation Report for NM_133433.4(NIPBL):c.310C>G (p.Pro104Ala)]

NM_133433.4(NIPBL):c.310C>G (p.Pro104Ala)

Gene:

NIPBL:NIPBL cohesin loading factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p13.2

Genomic location:

Preferred name:

NM_133433.4(NIPBL):c.310C>G (p.Pro104Ala)

HGVS:

NC_000005.10:g.36958183C>G
NG_006987.2:g.86301C>G
NM_015384.5:c.310C>G
NM_133433.4:c.310C>GMANE SELECT
NP_056199.2:p.Pro104Ala
NP_597677.2:p.Pro104Ala
NC_000005.9:g.36958285C>G
NG_006987.1:g.86301C>G
NM_133433.3:c.310C>G

Protein change:

P104A

Links:

dbSNP: rs772009624

NCBI 1000 Genomes Browser:

rs772009624

Molecular consequence:

NM_015384.5:c.310C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133433.4:c.310C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000849753	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 26, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000849753

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 26, 2017)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000849753.5

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

Description

The p.P104A variant (also known as c.310C>G), located in coding exon 3 of the NIPBL gene, results from a C to G substitution at nucleotide position 310. The proline at codon 104 is replaced by alanine, an amino acid with highly similar properties. This variant did not co-segregate with disease in one individual tested in our laboratory. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Nov 3, 2024

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