U.S. flag

An official website of the United States government

NM_001013838.3(CARMIL2):c.1334+1G>T AND Severe combined immunodeficiency due to CARMIL2 deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 28, 2021
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:
RCV001824237.2

Allele description

NM_001013838.3(CARMIL2):c.1334+1G>T

Gene:
CARMIL2:capping protein regulator and myosin 1 linker 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_001013838.3(CARMIL2):c.1334+1G>T
HGVS:
  • NC_000016.10:g.67648315G>T
  • NG_054728.1:g.8397G>T
  • NM_001013838.3:c.1334+1G>TMANE SELECT
  • NM_001317026.3:c.1226+1G>T
  • NC_000016.9:g.67682218G>T
Links:
dbSNP: rs780608299
NCBI 1000 Genomes Browser:
rs780608299
Molecular consequence:
  • NM_001013838.3:c.1334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001317026.3:c.1226+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Severe combined immunodeficiency due to CARMIL2 deficiency
Synonyms:
IMMUNODEFICIENCY 58
Identifiers:
MONDO: MONDO:0029134; MedGen: C4748304; OMIM: 618131

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002073874Genomics Facility, Ludwig-Maximilians-Universität München
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 28, 2021) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

A human immunodeficiency syndrome caused by mutations in CARMIL2.

Schober T, Magg T, Laschinger M, Rohlfs M, Linhares ND, Puchalka J, Weisser T, Fehlner K, Mautner J, Walz C, Hussein K, Jaeger G, Kammer B, Schmid I, Bahia M, Pena SD, Behrends U, Belohradsky BH, Klein C, Hauck F.

Nat Commun. 2017 Jan 23;8:14209. doi: 10.1038/ncomms14209.

PubMed [citation]
PMID:
28112205
PMCID:
PMC5473639

Details of each submission

From Genomics Facility, Ludwig-Maximilians-Universität München, SCV002073874.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providedPBMCsnot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2025