NM_002907.4(RECQL):c.1856A>T (p.Asn619Ile) AND not specified

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Jan 20, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV002246781.2

Allele description [Variation Report for NM_002907.4(RECQL):c.1856A>T (p.Asn619Ile)]

NM_002907.4(RECQL):c.1856A>T (p.Asn619Ile)

Genes:

RECQL:RecQ like helicase [Gene - OMIM - HGNC]
PYROXD1:pyridine nucleotide-disulphide oxidoreductase domain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

Preferred name:

NM_002907.4(RECQL):c.1856A>T (p.Asn619Ile)

HGVS:

NC_000012.12:g.21470288T>A
NG_053196.1:g.37685T>A
NM_001350912.2:c.*1534T>A
NM_001350913.2:c.*1534T>A
NM_002907.3:c.1856A>T
NM_002907.4:c.1856A>TMANE SELECT
NM_024854.5:c.*1534T>AMANE SELECT
NM_032941.3:c.1856A>T
NP_002898.2:p.Asn619Ile
NP_116559.1:p.Asn619Ile
NC_000012.11:g.21623222T>A

Protein change:

N619I

Links:

dbSNP: rs2137305371

NCBI 1000 Genomes Browser:

rs2137305371

Molecular consequence:

NM_001350912.2:c.*1534T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001350913.2:c.*1534T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_024854.5:c.*1534T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_002907.4:c.1856A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_032941.3:c.1856A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002519886	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Benign (May 4, 2022)	germline	clinical testing	Citation Link,
SCV003859459	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 20, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002519886

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Benign
(May 4, 2022)

germline

clinical testing

Citation Link,

SCV003859459

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 20, 2023)

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 Mendelics, SCV002519886.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Ambry Genetics, SCV003859459.2

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

Description

The p.N619I variant (also known as c.1856A>T), located in coding exon 14 of the RECQL gene, results from an A to T substitution at nucleotide position 1856. The asparagine at codon 619 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated 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: May 19, 2024

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