NM_003136.4(SRP54):c.677G>A (p.Gly226Glu) AND Shwachman-Diamond syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 14, 2017
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000577921.2

Allele description [Variation Report for NM_003136.4(SRP54):c.677G>A (p.Gly226Glu)]

NM_003136.4(SRP54):c.677G>A (p.Gly226Glu)

Gene:

SRP54:signal recognition particle 54 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q13.2

Genomic location:

Preferred name:

NM_003136.4(SRP54):c.677G>A (p.Gly226Glu)

HGVS:

NC_000014.9:g.35013386G>A
NM_001146282.2:c.530G>A
NM_003136.4:c.677G>AMANE SELECT
NP_001139754.1:p.Gly177Glu
NP_003127.1:p.Gly226Glu
NC_000014.8:g.35482592G>A
NM_003136.3:c.677G>A

Protein change:

G177E; GLY226GLU

Links:

OMIM: 604857.0001; dbSNP: rs1555354750

NCBI 1000 Genomes Browser:

rs1555354750

Molecular consequence:

NM_001146282.2:c.530G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003136.4:c.677G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Shwachman-Diamond syndrome 1 (SDS1)
Identifiers:: MONDO: MONDO:0044204; MedGen: C4692625; OMIM: 260400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000583969	Molecular ImmunoRheumatology UMRS_1109, Institut national de la santé et de la recherche médicale	no assertion criteria provided	Pathogenic (Jul 14, 2017)	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000583969

Molecular ImmunoRheumatology UMRS_1109, Institut national de la santé et de la recherche médicale

no assertion criteria provided

Pathogenic
(Jul 14, 2017)

de novo

research

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	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.

Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Müller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, et al.

J Clin Invest. 2017 Nov 1;127(11):4090-4103. doi: 10.1172/JCI92876. Epub 2017 Oct 3.

PubMed [citation]

PMID:: 28972538
PMCID:: PMC5663364

Details of each submission

From Molecular ImmunoRheumatology UMRS_1109, Institut national de la santé et de la recherche médicale, SCV000583969.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 23, 2023

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