NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) AND Hemolytic anemia

Germline classification:: no classifications from unflagged records (1 submission)
Last evaluated:: Nov 15, 2023
Review status:: no classifications from unflagged records

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:: RCV001003794.3

Allele description [Variation Report for NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val)]

NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val)

Gene:

SPTA1:spectrin alpha, erythrocytic 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.1

Genomic location:

Preferred name:

NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val)

HGVS:

NC_000001.11:g.158627717G>C
NG_011474.1:g.64000C>G
NM_003126.4:c.5572C>GMANE SELECT
NP_003117.2:p.Leu1858Val
LRG_1131:g.64000C>G
NC_000001.10:g.158597507G>C
NM_003126.2:c.5572C>G
P02549:p.Leu1858Val

Protein change:

L1858V

Links:

UniProtKB: P02549#VAR_001350; dbSNP: rs3737515

NCBI 1000 Genomes Browser:

rs3737515

Molecular consequence:

NM_003126.4:c.5572C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hemolytic anemia
Identifiers:: MONDO: MONDO:0003664; MedGen: C0002878; Human Phenotype Ontology: HP:0001878

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No clinical assertions found. See "Flagged submissions" below.

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	2	not provided	not provided	2	not provided	research

Citations

PubMed

Whole-genome sequencing of patients with rare diseases in a national health system.

Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, et al.

Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24.

PubMed [citation]

PMID:: 32581362
PMCID:: PMC7610553

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001162238.1

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

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

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001162238	NIHR Bioresource Rare Diseases, University of Cambridge	flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None	Likely pathogenic	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001162238

NIHR Bioresource Rare Diseases, University of Cambridge

flagged submission

Reason: Outlier claim with insufficient supporting evidence

Notes: None

Likely pathogenic

unknown

research

PubMed (1)
[See all records that cite this PMID]

Last Updated: Jan 13, 2025

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