NM_005219.5(DIAPH1):c.2000CTT[1] (p.Ser668del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 23, 2022
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:: RCV003238879.1

Allele description [Variation Report for NM_005219.5(DIAPH1):c.2000CTT[1] (p.Ser668del)]

NM_005219.5(DIAPH1):c.2000CTT[1] (p.Ser668del)

Gene:

DIAPH1:diaphanous related formin 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

5q31.3

Genomic location:

Preferred name:

NM_005219.5(DIAPH1):c.2000CTT[1] (p.Ser668del)

HGVS:

NC_000005.10:g.141573846AGA[1]
NG_011594.2:g.50206CTT[1]
NM_001079812.3:c.1973CTT[1]
NM_001314007.2:c.2000CTT[1]
NM_005219.4:c.2003_2005del
NM_005219.5:c.2000CTT[1]MANE SELECT
NP_001073280.1:p.Ser659del
NP_001300936.1:p.Ser668del
NP_005210.3:p.Ser668del
LRG_1117t1:c.1973CTT[1]
LRG_1117t2:c.2000CTT[1]
LRG_1117:g.50206CTT[1]
LRG_1117p1:p.Ser659del
LRG_1117p2:p.Ser668del
NC_000005.9:g.140953412_140953414del
NC_000005.9:g.140953413AGA[1]

Protein change:

S659del

Links:

dbSNP: rs1323222030

NCBI 1000 Genomes Browser:

rs1323222030

Molecular consequence:

NM_001079812.3:c.1973CTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001314007.2:c.2000CTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_005219.5:c.2000CTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003936402	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 23, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003936402

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 23, 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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV003936402.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of one amino acid in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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: Sep 29, 2024

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